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Atlas of X-Linked Intellectual Disability Syndromes (2 ed.)
Roger E. Stevenson, Charles E. Schwartz, and R. Curtis Rogers
The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive summary of the clinically distinctive disorders caused by genes on the X chromosome. Each syndrome is defined and ...
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Ciliopathies: A reference for clinicians
Thomas D. Kenny and Philip L. Beales (eds)
The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. This resource provides a ...
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Common Malformations
Lewis B. Holmes
This extensively illustrated resource describes the most common malformations and draws from many sources the information needed for a full diagnostic evaluation and discussion of treatment ...
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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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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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Genetics for Health Professionals in Cancer Care: From Principles to Practice
Chris Jacobs, Lorraine Robinson, and Patricia Webb (eds)
The role of genetics is becoming increasingly important in all aspects of healthcare and particularly in the field of cancer care. Genetics for Health Professionals in Cancer Care: From ...
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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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The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease (2 ed.)
Alan E. H. Emery and Marcia L. H. Emery
This resource traces the history of Duchenne Muscular Dystrophy in detail along with a commentary of Edward Meryon's research, which has led to our current understanding of the disease, ...
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Human Malformations and Related Anomalies (3 ed.)
Roger E. Stevenson, Judith G. Hall, David B. Everman, and Benjamin D. Solomon (eds)
Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The ...
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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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Oxford Handbook of Genetics
Guy Bradley-Smith, Sally Hope, Helen V. Firth, and Jane A. Hurst
An invaluable reference for the primary health care team and junior doctor in training, the Oxford Handbook of Genetics provides accessible information on specific genetic diseases, and ...
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Phenotypic Variation: Exploration and Functional Genomics
Moyra Smith
The goal of this resource is to present steps in the pathways of exploration to connect genotype to phenotype and to consider how alterations in genomes impact disease. Topics reviewed ...
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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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