期刊全称 | Atlas of Genetic Diagnosis and Counseling | 影响因子2023 | Harold Chen | 视频video | | 发行地址 | Presents a completely revised and expanded new edition of a definitive work.Supports physicians and health care professionals with numerous color photographs and an easy to use outline format.Includes | 图书封面 |  | 影响因子 | .Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. .Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and | Pindex | Reference work 2017Latest edition |
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