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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