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The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routin...
A clear and comprehensive account of how genetic abnormalities, neurobiology, and neuropsychology work together to manifest cognitive-behavioral dysfunction. The authors review the current status of research in autosomal disorders that produce cognitive-behavioral dysfunction and syndromal and nonsyndromal disorders that produce mental retardation.
Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. It is a top-to-bottom revision of the landmark text that both revolutionized and accelerated the field of human genetics.
First multi-year cumulation covers six years: 1965-70.
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
Pediatric Nephrology is the premier comprehensive reference on congenital and acquired kidney diseases and their therapies in children. Section One opens with an overview of the anatomy, physiology, and biology of the pediatric kidney, critical to understanding disease. Section Two covers the evaluation, diagnosis, and therapy of specific kidney disorders. The book has an international focus, and is well knows for describing how research developments are applied in the clinical arena.
This atlas offers a guide to studying the fetal face by means of ultrasound analysis. It describes key phases in cranial-facial development, allowing the reader to learn the related semiology from its most simple iteration to the most complex one. The overall examination of a newborn’s face offers a rich source of information and can guide the general examination. The same applies in the context of fetal ultrasound examination. The analytical study of the fetal face not only makes it possible to screen for anomalies related to the face itself, but also yields valuable insights into the brain, the limbs, and the heart. In addition, it allows ultra-sonographers to unravel the puzzle of fetal...
To limit the skyrocketing costs of their employees' health insurance, companies such as Dow, Chevron, and IBM, as well as many large HMOs, have increasingly hired physicians to supervise the medical care they provide. As Elaine Draper argues in The Company Doctor, company doctors are bound by two conflicting ideals: serving the medical needs of their patients while protecting the company's bottom line. Draper analyzes the advent of the corporate physician both as an independent phenomenon, and as an index of contemporary culture, reaching startling conclusions about the intersection of corporate culture with professional autonomy. Drawing on over 100 interviews with company physicians, scien...
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult diseases, and we now have a better understanding of the molecular processes involved in genetic susceptibility and diseases mechanisms. The second edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthritis, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondylarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the omplexities of these diseases. Unique clinical applications of genetics to common diseases are covered in the additional new chapters on genetic counseling, pharmacogenetics, and the genetic consequences of modern therapeutics.