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The Bedside Dysmorphologist (2 ed.)
William Reardon
The Bedside Dysmorphologist is a thoughtful clinical guide to common--and often quite subtle--congenital malformations in clinical exam. Organized by area of the body, each section provides ...
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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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The Drama of DNA: Narrative Genomics
Karen H. Rothenberg and Lynn Wein Bush
Through the use of dramatic narratives, The Drama of DNA brings to life the complexities raised by the application of genomic technologies to health care and diagnosis. This creative, ...
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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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Females Are Mosaics: X Inactivation and Sex Differences in Disease
Barbara Migeon
Women can be described as genetic mosaics because they have two distinctly different types of cells throughout their bodies. Unlike males, who have one X chromosome, females have two X ...
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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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Genomic Medicine: Principles and Practice (2 ed.)
Dhavendra Kumar and Charis Eng (eds)
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 ...
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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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Handbook of Physical Measurements
Karen W. Gripp, Anne M. Slavotinek, Judith G. Hall, and Judith E. Allanson
Thoroughly updated and revised, this new edition of this resource provides a comprehensive review of physical measurements used in the clinical evaluation of neonates, children, and adults ...
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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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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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Neurogenetics
Kishore R. Kumar, Carolyn M. Sue, Alexander Münchau, and Christine Klein
This online resource provides clinicians with a framework for dealing with neurogenetic conditions using real case studies to illustrate the most important and topical neurogenetic ...
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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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Rethinking Reprogenetics: Enhancing Ethical Analyses of Reprogenetic Technologies
Inmaculada de Melo-Martin
Reprogenetic technologies, which combine the power of reproductive techniques with the tools of genetic science and technology, promise prospective parents a remarkable degree of control to ...
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Seeking Cures: Design of Therapies for Genetically Determined Diseases
Moyra Smith
Seeking Cures outlines the progress and implications of science's quest to identify therapeutic targets and initiate novel treatments at the gene, RNA, protein, and physiological levels. ...
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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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Signs and Symptoms of Genetic Conditions: A Handbook
Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme (eds)
Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical online guide for the diagnosis and management ...
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