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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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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Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development (4 ed.)
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger
This is a unique atlas presenting age-related radiographs on more than 250 rare constitutional skeletal diseases (dysplasias, dysostoses, osteolyses, disorders of bone density, and more) ...
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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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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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Ethical Dilemmas in Genetics and Genetic Counseling: Principles through Case Scenarios
Janice Berliner (ed.)
Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conception, prenatal, and predictive testing. While new genetic testing offers ...
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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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Foundations of Perinatal Genetic Counseling
Amber Mathiesen and Kali Roy
Foundations of Perinatal Genetic Counseling provides an overview of the core concepts needed to practice perinatal genetic counseling, including the basics of pregnancy, 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 Consultations in the Newborn
Robin D. Clark and Cynthia J. Curry
This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of ...
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Genetic Counseling Research: A Practical Guide
Ian M. MacFarlane, Patricia McCarthy Veach, and Bonnie S. LeRoy
Genetic Counseling Research: A Practical Guide is an online resource devoted to research methodology in genetic counseling. It offers step-by-step guidance for conducting research, from 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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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 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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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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