Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders-Reference-Cited by-同舟云学术

Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

Published:2015-09-18 Issue:9 Volume:10 Page:e0138314
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Polla Daniel L.,Cardoso Maria T. O.,Silva Mayara C. B.,Cardoso Isabela C. C.,Medina Cristina T. N.,Araujo Rosenelle,Fernandes Camila C.,Reis Alessandra M. M.,de Andrade Rosangela V.,Pereira Rinaldo W.,Pogue Robert

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference107 articles.

1. A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective;WL Wooderchak-Donahue;BMC medical genomics,2012

2. Targeted next generation sequencing as a diagnostic tool in epileptic disorders;JR Lemke;Epilepsia,2012

3. Achondroplasia;RM Pauli,1993

4. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel;MS Watson;Genetics in medicine: official journal of the American College of Medical Genetics,2004

5. New approaches to molecular diagnosis;BR Korf;JAMA: the journal of the American Medical Association,2013

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