The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders-Reference-Cited by-同舟云学术

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Published:2014-02 Issue:2 Volume:16 Page:176-182
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Shashi Vandana,McConkie-Rosell Allyn,Rosell Bruce,Schoch Kelly,Vellore Kasturi,McDonald Marie,Jiang Yong-Hui,Xie Pingxing,Need Anna,Goldstein David B

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201399.pdf

Reference27 articles.

1. Rimoin DL, Connor JM, Pyeritz RE. Nature and frequency of genetic disease, Chapter 2. In: Emery AE, Rimoin DL (eds). The Principles and Practice of Medical Genetics, 3rd edn. Churchill Livingstone: Edinburgh, NY,1997:31–34.

2. Stevenson RE, Hall JG. Human malformations and related anomalies. In: Oxford Monographs on Medical Genetics, 2nd edn. Oxford University Press, 2006;3–75.

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