{"title":"Oxford Monographs On Medical Genetics","description":null,"products":[{"product_id":"chromosome-abnormalities-and-genetic-counseling-book-r-j-m-gardner-9780195149609","title":"Chromosome Abnormalities and Genetic Counseling","description":"Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counselling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and\/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counsellors, medical geneticists, paediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thoroughly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and recent advances in molecular cytogenetics are noted. The book will give counsellors the information that will enable them to help concerned parents accommodate to their particular \"chromosomal situation\", and to determine what may be, for them, the best course of action.","brand":"WoB","offers":[{"title":"US \/ GOOD \/ SBYB","offer_id":49526451470609,"sku":"CIN0195149602G","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":50766955708689,"sku":"GOR004201726","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ LIKE_NEW \/ INTERNAL","offer_id":52739532685585,"sku":"GOR012173016","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ GOOD \/ INTERNAL","offer_id":53473835712785,"sku":"GOR006526433","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195149602.jpg?v=1751195506"},{"product_id":"genetic-basis-of-common-diseases-book-richard-a-king-9780195125825","title":"The Genetic Basis of Common Diseases","description":"Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The Second Edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthrits, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondyloarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the complexities of these diseases. Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics.","brand":"WoB","offers":[{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":49622520955153,"sku":"GOR008432457","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195125827.jpg?v=1751101529"},{"product_id":"duchenne-muscular-dystrophy-book-alan-e-h-emery-9780192623706","title":"Duchenne Muscular Dystrophy","description":"This is the second edition of a book which considers Duchenne muscular dystrophy (DMD) in detail and critically evaluates the published literature. The author draws on his clinical experience and scientific knowledge to provide an account of one of the most common inherited diseases. After a brief historical introduction, the author describes the clinical features of the disease in detail, emphasizing the involvement of tissues other than skeletal muscle. The biochemistry, genetics and molecular pathology are discussed in the context of recent research findings, building a picture of the role of dystrophin in the pathogenesis of the disease. Prevention through neonatal screening, carrier detection, genetic counselling and prenatal diagnosis is covered, stressing the importance of DNA markers and gene probes. Finally the book discusses the management of patients with the disease and the possibilities for treatment, which include surgical correction of deformities, new drug treatments, the prospect for myoblast transfer and the possibilities for gene therapy.","brand":"WoB","offers":[{"title":"US \/ GOOD \/ SBYB","offer_id":49799981334801,"sku":"CIN0192623702G","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0192623702.jpg?v=1751323557"},{"product_id":"psychosocial-genetic-counseling-book-jon-weil-9780195120660","title":"Psychosocial Genetic Counseling","description":"Psychosocial issues are integral to all genetic counselling interactions. They include counsellees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxeity and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literatue, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counselling.  The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counselling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counselling techniques and the agenda of the genetic counselling session are then addressed in detail. Specialized aspects of prenatal diagnosis counselling, cancer risk counselling, and genetic counselling with children and adolescents are integrated with these general principles. Nondirective counselling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counsellee and counsellor, are then discussed as they enter into all aspects of genetic counselling.","brand":"WoB","offers":[{"title":"US \/ GOOD \/ SBYB","offer_id":50022598705425,"sku":"CIN0195120663G","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":50587789132049,"sku":"GOR007649398","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":50999780540689,"sku":"NIN9780195120660","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52481245315345,"sku":"NLS9780195120660","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195120663.jpg?v=1751227345"},{"product_id":"genetic-skin-disorders-book-virginia-p-sybert-9780195062182","title":"Genetic Skin Disorders","description":"A comprehensive survey of the subject, this scholarly work describes in full detail 327 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, with sections devoted to major and minor dermatologic features, associated clinical abnormalities, histopathology (including both light and electron microscopy), biochemical and molecular information, treatment, mode of inheritance and recurrence risks, prenatal diagnosis, differential diagnosis, support group listing, and annotated references. The appendix on Differential Diagnosis by Skin Sign is designed to allow both those familiar with dermatologic terminology and those who are not to quickly find the correct diagnoses to consider. The introductory chapter on practical inheritance clearly outlines the modes of inheritance responsible for the pathologic conditions and the associated recurrence risks. The author has succeeded in presenting the material in language accessible to the non-geneticist. The listing of specific patient support groups will be welcomed by clinicians who wish to provide such information to their patients. The annotated bibliography for each entry is carefully selected to include the key reviews and pivotal papers from journals and other sources readily available to practitioners who wish to obtain more detailed information on a specific topic. The book is lavishly illustrated with both color and black-and-white photographs, many of which come from the author's private collection. Virginia Sybert's training and experience in both dermatology and medical genetics have been brought to bear in this volume-a lucid and critical synthesis of information on genetic diseases of the skin. Current hypotheses and classic assumptions are presented and assessed in light of her own clinical experience. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest.","brand":"WoB","offers":[{"title":"US \/ VERY_GOOD \/ SBYB","offer_id":50327877353745,"sku":"CIN0195062183VG","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/B0072TRWN0.jpg?v=1750812189"},{"product_id":"quantitative-dermatoglyphics-book-danuta-z-loesch-9780192613059","title":"Quantitative Dermatoglyphics","description":null,"brand":"WoB","offers":[{"title":"US \/ GOOD \/ SBYB","offer_id":50345342697745,"sku":"CIN0192613057G","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0192613057.jpg?v=1750694749"},{"product_id":"genetics-and-public-health-in-the-21st-century-book-muin-j-khoury-9780195128307","title":"Genetics and Public Health in the 21st Century","description":"With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the broad mission of public health is to fulfill society's interest in assuring conditions in which people can be healthy, the integration of new genetic information in public health research, policy and program development is unavoidable. Public health leadership is urgently needed to use genetic information to improve health and prevent disease, and to address ethical, legal and social issues resulting from inappropriate use of such information. In the not too-distant future, disease prevention and health promotion programs will routinely consider whether or not to use genetic information to help target behavioral, medical or environmental intervention activities in order to maximize benefit and minimize costs and harm to individuals. In anticipation of the expected growth at the interface of genetics and public health, this book delineates a framework for the integration of advances in human genetics into public health practice. It provides a comprehensive review of public health genetics, including chapters on important general issues such as newborn and other genetic screening, the delivery of genetic services, and the ethical, legal and social implications of the use of genetics within public health. It also reviews relevant clinical topics, the historical background, cross-cultural aspects, and communication issues. Contributors come from a wide range of fields including epidemiology, biostatistics, health policy and management, health services research, behavioral and social sciences, ethics, law, health economics, and laboratory sciences.","brand":"WoB","offers":[{"title":"US \/ GOOD \/ SBYB","offer_id":50345421242641,"sku":"CIN0195128303G","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":51612597551377,"sku":"GOR012702004","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ VERY_GOOD \/ SBYB","offer_id":52103043154193,"sku":"CIN0195128303VG","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52516009672977,"sku":"NLS9780195128307","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ GOOD \/ INTERNAL","offer_id":53043379175697,"sku":"GOR012681914","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195128303.jpg?v=1776939342"},{"product_id":"transcription-factors-and-human-disease-book-gregg-l-semenza-9780195112399","title":"Transcription Factors and Human Disease","description":"Transcription factors are essential mediators of the genetic programs that control development and physiology. This exciting book presents current knowledge of transcription factors from two viewpoints. First, the basic science of transcriptional regulation is discussed. Second, inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites are described. Readers are also introduced to the involvement of transcription factors in somatic cell genetic disease (cancer) and epigenetic disease (teratogenesis).","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50439124975889,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":50439126810897,"sku":"GOR013951570","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52516014391569,"sku":"NLS9780195112399","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195112393.jpg?v=1751132539"},{"product_id":"huntington-s-disease-book-gillian-bates-9780199929146","title":"Huntington's Disease","description":"This fourth edition of Huntington's Disease presents a comprehensive summary of the current knowledge of this disease, including the major scientific and clinical advances that have occurred since publication of the third edition in 2002.   Completely updated and expanded, chapters in this volume are organized in five sections:   · Clinical aspects of Huntington's disease, including updated chapters on historical perspectives, neurological, neuropsychiatric, and neuropsychological aspects, and new chapters on juvenile Huntington's and the premanifest and early stages   · The genetics of Huntington's disease, including new information on its epidemiology discussions of new testing guidelines  · Neurobiology, including recent insights into correlations between pathology and symptoms and a new chapter on neuronal circuitry  · The molecular biology of Huntington's disease, including new chapters on the normal function of huntingtin, the molecular pathogenesis of Huntington's disease and the peripheral pathology of the disorder, and an extensively updated chapter on its structural biology  · An updated description of the comprehensive care for Huntington's disease, featureing a new chapter on preclinical therapeutics and a completely rewritten chapter on the state of the art of experimental therapeutics and clinical trials.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50467100393745,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ GOOD \/ SBYB","offer_id":50467100918033,"sku":"CIN0199929149G","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52455479705873,"sku":"NLS9780199929146","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0199929149.jpg?v=1750694941"},{"product_id":"hereditary-hearing-loss-and-its-syndromes-book-helga-v-toriello-9780199731961","title":"Hereditary Hearing Loss and Its Syndromes","description":"This is the third edition of the foremost medical reference on hereditary hearing loss. Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular diagnosis and on genetic susceptibility to ototoxic factors have been added. As in previous editions, the syndromes are grouped by system (visual, metabolic, cardiologic, neurologic, musculoskeletal, endocrine, etc.), with each chapter written by a recognized expert in the field.   Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and for researchers in the hearing sciences.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50697016181009,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ GARDNERS","offer_id":50697020801297,"sku":"NGR9780199731961","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":51490798240017,"sku":"GOR014301681","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"US \/ VERY_GOOD \/ SBYB","offer_id":51727874326801,"sku":"CIN0199731969VG","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0199731969.jpg?v=1751133022"},{"product_id":"genetic-skin-disorders-book-virginia-p-sybert-9780190276478","title":"Genetic Skin Disorders","description":"This fully revised and updated edition of Genetic Skin Disorders reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals.Informed by the author's extensive clinical experience and suffused with a distinctive, witty voice, Genetic Skin Disorders is an ideal companion in the laboratory, clinic, or consulting room.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50999643078929,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":50999645634833,"sku":"NIN9780190276478","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52488723562769,"sku":"NLS9780190276478","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ GOOD \/ SBYB","offer_id":53601144013073,"sku":"CIN0190276479G","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0190276479.jpg?v=1751163839"},{"product_id":"overgrowth-syndromes-book-giovanni-neri-9780190944896","title":"Overgrowth Syndromes","description":"Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.   Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50999682859281,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":50999685841169,"sku":"NIN9780190944896","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52488832352529,"sku":"NLS9780190944896","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0190944897.jpg?v=1750842921"},{"product_id":"non-mendelian-genetics-in-humans-book-harry-ostrer-9780195068771","title":"Non-Mendelian Genetics in Humans","description":"When rediscovered at the turn of the century, Mendel's laws were found to be applicable to humans, but from the beginning they were fraught with problems. Sex-linked traits and linked genes defied Mendel's rules. Later, other exceptions were found, including sporadic cases, non-penetrance, variable expressivity, and preferential parental transmission.  In this book, Harry Ostrer observes that some of these problems can be explained by incomplete ascertainment, typing errors and modifying genes. He then goes on to systematically explore the evidence for a number of newer genetic processes that were not foreseen by Mendel and his intellectual heirs, examining the molecular basis for these processes and their effects on transmission and phenotype. He shows that these non-Mendelian processes--gonadal and somatic mosaicism, sex-linked inheritance, mitochondrial transmission, genomic imprinting, accelerated rates of mutation, and viral infection--resolve many of the exceptions to Mendelian inheritance. He also provides a complete review of Mendelian genetics, as well as an overview of the structure and functions of genes, chromosomes, and their products. Thus the book presents a holistic view of human genetics.  In the last chapter, Ostrer grapples with the possibilities for identifying new genetic processes, and with genetic determinism--the view that a person's phenotype is fully subject to his or her genetic constitution. He contends that despite the large number of genetic combinations, phenotypes cannot be predicted precisely, even with sufficient computing power. Genetic processes are frequently modified by environmental exposure or they may be random or stochastic in their occurrence. Hence, there are innate limits to genetic determinism. Although prediction of phenotype based on genotype will improve in the future as all of the human genes are identified, such predictions will always remain imprecise.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":50999761666321,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":50999764517137,"sku":"NIN9780195068771","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52124218654993,"sku":"NLS9780195068771","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0195068777.jpg?v=1751356433"},{"product_id":"human-malformations-and-related-anomalies-book-roger-e-stevenson-9780199386031","title":"Human Malformations and Related Anomalies","description":"The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":51000127750417,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":51000130568465,"sku":"NIN9780199386031","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52616664613137,"sku":"NLS9780199386031","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/019938603X.jpg?v=1751132858"},{"product_id":"gardner-and-sutherland-s-chromosome-abnormalities-and-genetic-counseling-book-rj-mckinlay-gardner-9780199329007","title":"Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling","description":"Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the \"unexplainable,\" helping families understand why abnormalities occur and whether they're likely to occur again.   Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve.   Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":51000147443985,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":51000150655249,"sku":"NIN9780199329007","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ GARDNERS","offer_id":52395240784145,"sku":"NGR9780199329007","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0199329001.jpg?v=1751356042"},{"product_id":"genomic-medicine-book-dhavendra-kumar-9780199896028","title":"Genomic Medicine","description":"The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.","brand":"WoB","offers":[{"title":"US \/ NEW \/ INGRAM","offer_id":51112905015569,"sku":"NIN9780199896028","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ NEW \/ INGRAM","offer_id":52616701903121,"sku":"NLS9780199896028","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/B00XV42ZTQ.jpg?v=1751037991"},{"product_id":"genetic-diseases-of-the-eye-book-md-elias-i-traboulsi-med-9780197659403","title":"Genetic Diseases of the Eye","description":"This highly anticipated third edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. The richly illustrated volume covers every area in ophthalmology such as: malformations, refractive errors, the cornea, glaucoma and cataracts, retina and the optic nerve, eye movement disorders, systemic diseases of the eye, and more. What remains at the core of the book is a sound clinical approach to the patient with genetic diseases that affects the eye. Every chapter emphasizes the clinical aspects of diseases and ties them to underlying molecular mechanisms and outlines current therapy.  This new edition continues to assemble the visionary work and technology that contributors from around the world have accomplished in this exciting field. In addition to updating all 52 original chapters, this 3rd edition contains Contains new chapters covering epidemiology and counseling, vision rehabilitation, embryology and development, genetics of eye conditions, diagnostic and imaging techniques, specific genetic disorders, and patient-reported outcomes. These new chapters provide comprehensive insights into the latest advancements and methodologies in the field; this last chapter to delve into basic genetic counseling. These updates and additions will continue to make Genetic Diseases of the Eye the most important reference for students, specialists, and clinical researchers in the fields of genetics and ophthalmology.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":51626977820945,"sku":"","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ GARDNERS","offer_id":51626978115857,"sku":"NGR9780197659403","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"US \/ NEW \/ INGRAM","offer_id":52500606124305,"sku":"NIN9780197659403","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/0197659403.jpg?v=1751462357"},{"product_id":"chromosome-abnormalities-and-genetic-counseling-book-rj-mckinlay-gardner-9780195375336","title":"Chromosome Abnormalities and Genetic Counseling","description":"Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, \"Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?\" are common concerns for families.  This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.","brand":"WoB","offers":[{"title":"- \/ - \/ -","offer_id":51780663935249,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ GOOD \/ SBYB","offer_id":51780664394001,"sku":"CIN0195375335G","price":0.0,"currency_code":"GBP","in_stock":false},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":52089771589905,"sku":"GOR014484946","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780195375336.jpg?v=1772272423"},{"product_id":"genetics-of-mitochondrial-diseases-book-ian-james-holt-9780198508656","title":"Genetics of Mitochondrial Diseases","description":"Molecular genetics has revolutionised our understanding of human disease and nowhere is this more apparent than the group of diseases caused by mitochondrial dysfunction. The concept of mitochondrial diseases dates back only as far as the 1960s, and they were given little credence until mutations in mitochondrial DNA were found in the late 1980s. This international edited book summarises the advances in human mitochondrial genetics made over the past decade and a half. During that time, numerous mutations of mitochondrial DNA have been discovered and more recently mitochondrial diseases have been linked to a number of nuclear gene mutations. Although individually rare, mitochondrial diseases collectively represent a common cause of genetic disease. They have myriad effects and often manifest as common disorders such as diabetes, cardiac dysfunction and neurodegenerative disease. Effective treatments are unlikely to be found for some time for the vast majority of mitochondrial disorders and so pre-natal diagnosis and genetic counselling are of primary importance in the management of mitochondrial disease.  In order to make sense of the diversity of mitochondrial disease the reader is first treated to a review of mitochondrial DNA metabolism and normal mitochondrial function. The core of the book details specific mitochondrial and nuclear mutations and the diseases they cause, whilst at the same time providing further insight into mitochondrial function. Later sections assess the role of cellular and animal models in advancing our understanding of mitochondrial diseases and the prospects for novel therapeutic strategies to combat these enigmatic disorders.  Mitochondrial diseases are an increasingly recognised cause of inherited disease. Most clinicians are now aware of this group of diseases and those involved in genetic counselling will recognise the need for a greater understanding of this group of disorders. This book will also appeal to scientific and medical geneticists, and to registrars who encounter this group of diseases in the clinic.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52332933153041,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ INGRAM","offer_id":52332933644561,"sku":"NLS9780198508656","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780198508656.jpg?v=1776940592"},{"product_id":"fetal-medicine-book-andr-bou-9780192619044","title":"Fetal Medicine","description":"This new book will enable GP's, obstetricians and paediatricians to answer the concerns of the families in their care. It is the first book to make information on this important topic so easily accessible to clinicians. The book is firmly rooted in clinical practice and based on many years of experience, much of it involving the development and implementation of new techniques for examining the fetus in utero. The techniques now available are assessed and better ways to identify pregnancies which are eligible to their application are proposed. Throughout the book, the special status of the fetus as a patient is emphasized and the concerns and questions of families are considered, making this the first fully comprehensive and authoritative volume on fetal medicine.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52350223974673,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ INGRAM","offer_id":52350224564497,"sku":"NLS9780192619044","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780192619044.jpg?v=1758180008"},{"product_id":"duchenne-muscular-dystrophy-book-alan-e-h-emery-9780199681488","title":"Duchenne Muscular Dystrophy","description":"Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder.  Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies.  Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52410279985425,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ INGRAM","offer_id":52410280444177,"sku":"NLS9780199681488","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780199681488.jpg?v=1758777458"},{"product_id":"landmarks-in-medical-genetics-book-peter-s-harper-9780195159301","title":"Landmarks in Medical Genetics","description":"Advances in genetics over the past 50 years have dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments that now are accepted and familiar. Few have time to search for the original papers, which are scattered and often difficult to obtain.  This collection has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on each paper and section place the work in its current context and serve to unify the different parts of the book. They also help make it a readable and authoritative source of information.  The papers chosen fall into several groups. First are classic descriptions of important genetic disorders, often from the pre-mendelian era. The following sections deal with the definition of human mendelian inheritance, the origins of human cytogenetics, the early development of the human gene map and the transition from biochemical genetics to human molecular genetics, the relatively recent studies that have shown how mendelian principles are increasingly modifiable, and finally advances in the treatment and management of genetic disorders, which are placed in their social context.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52429862633745,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ INGRAM","offer_id":52429863125265,"sku":"NLS9780195159301","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780195159301.jpg?v=1776939012"},{"product_id":"genetic-disorders-of-human-sexual-development-book-leonard-pinsky-9780195109078","title":"Genetic Disorders of Human Sexual Development","description":"Authoritative clinical reference on genetic sexual disorders, a field that has been transformed in many areas by molecular genetics.","brand":"WoB","offers":[{"title":"GB \/ NEW \/ INGRAM","offer_id":52516014620945,"sku":"NLS9780195109078","price":0.0,"currency_code":"GBP","in_stock":true},{"title":"US \/ NEW \/ INGRAM","offer_id":53495012720913,"sku":"NIN9780195109078","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780195109078.jpg?v=1776940036"},{"product_id":"genetics-of-obesity-syndromes-book-philip-r-beales-9780195300161","title":"Genetics of Obesity Syndromes","description":"Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients.  The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52516034445585,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ NEW \/ INGRAM","offer_id":52516034871569,"sku":"NLS9780195300161","price":0.0,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780195300161.jpg?v=1776939714"},{"product_id":"inherited-metabolic-disease-in-adults-book-carla-e-m-hollak-9780199972135","title":"Inherited Metabolic Disease in Adults","description":"As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.  Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.","brand":"WoB","offers":[{"title":"- \/ - \/ INTERNAL","offer_id":52843325915409,"sku":null,"price":0.0,"currency_code":"GBP","in_stock":true},{"title":"GB \/ VERY_GOOD \/ INTERNAL","offer_id":52843325980945,"sku":"GOR014637986","price":0.0,"currency_code":"GBP","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0784\/4072\/6801\/files\/9780199972135.jpg?v=1764782517"}],"url":"https:\/\/www.worldofbooks.com\/en-au\/collections\/oxford-monographs-on-medical-genetics-book-series.oembed","provider":"World of Books ","version":"1.0","type":"link"}