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Titlebook: Atlas of Genetic Diagnosis and Counseling; Harold Chen Reference work 2017Latest edition Springer Science+Business Media LLC 2017 Cutaneou

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发表于 2025-3-21 16:37:57 | 显示全部楼层 |阅读模式
期刊全称Atlas of Genetic Diagnosis and Counseling
影响因子2023Harold Chen
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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Titlebook: Atlas of Genetic Diagnosis and Counseling;  Harold Chen Reference work 2017Latest edition Springer Science+Business Media LLC 2017 Cutaneou
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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发表于 2025-3-21 22:25:04 | 显示全部楼层
Androgen Insensitivity Syndrome,rmal urinary 17-ketosteroid levels, an androgen metabolite, as well as by the absence of treatment effect when 46,XY women were treated with methyl testosterone, suggesting androgen resistance rather than a deficiency (Wilkins 1950; Speroff and Fritz 2005; Oakes et al. 2009).
发表于 2025-3-22 01:30:56 | 显示全部楼层
Acardia,lenc et al. 1999) and even in quintuplets. Almost all cases reported are monozygotic twins. However, there are reports of dichorionic monozygotic twin gestations with TRAP sequence (French et al. 1998; Gewolb et al. 1983).
发表于 2025-3-22 06:20:47 | 显示全部楼层
Albinism,; Summers et al. 1996). The prevalence of all forms of albinism varies considerably worldwide, estimated at approximately 1/17,000 and about 1 in 70 people carry a gene for oculocutaneous albinism (OCA) (Grønskov et al. 2007).
发表于 2025-3-22 09:51:54 | 显示全部楼层
Hiroaki Chiyokura,Fumihiko Kimura, complete androgen insensitivity), delayed or incomplete puberty, primary amenorrhea or virilization in a girl, breast development in a boy, and gross or cyclic hematuria in a boy (unrecognized virilized 46,XX with CAH) (Lee et al. 2006).
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发表于 2025-3-23 04:58:26 | 显示全部楼层
color photographs and an easy to use outline format.Includes.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 detai
发表于 2025-3-23 05:36:44 | 显示全部楼层
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