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Duchenne Muscular Dystrophy (4 ed.)
Alan E. H. Emery, Francesco Muntoni, and Rosaline C. M. Quinlivan
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 ...
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Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis (3 ed.)
Robert P. Erickson and Anthony J. Wynshaw-Boris (eds)
Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has been identified. For each disorder, an analysis of the role of the ...
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Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling (5 ed.)
R.J. McKinlay Gardner and David J. Amor
Medical geneticists and genetic counselors regularly see families attending the genetic counseling clinic with questions about chromosome abnormalities. These families may themselves have ...
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Genetic Diseases of the Eye (2 ed.)
Elias I Traboulsi, MD (ed.)
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the ...
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Genetic Skin Disorders (3 ed.)
Virginia P. Sybert
This book is a readable, reliable guide to the diagnosis and differential of inherited skin disorders to which generalists, paediatricians, dermatologists, and geneticists can refer during ...
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Genetics of Obesity Syndromes
Philip R. Beales, I. Sadaf Farooqi, and Stephen O'Rahilly
This resource addresses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for ...
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Genomics and Health in the Developing World
Dhavendra Kumar (ed.)
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation - with particular emphasis on medical ...
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Huntington's Disease
Gillian Bates, Sarah Tabrizi, and Lesley Jones (eds)
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 ...
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Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways
Brendan Lee and Fernando Scaglia (eds)
Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an ...
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Inherited Metabolic Disease in Adults: A Clinical Guide
Carla E. M. Hollak and Robin Lachmann (eds)
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 ...
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Overgrowth Syndromes: A Clinical Guide
Giovanni Neri, Luigi Boccuto, and Roger E. Stevenson (eds)
This book provides comprehensive details on a number of well-defined genetic disorders and a selection of less well-defined entities that include somatic overgrowth as a major ...
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A Short History of Medical Genetics
Peter S. Harper
This resource presents a lively account of how our ideas and knowledge about human genetics have developed over the past century from the perspective of someone inside the field with a deep ...
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