Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
About this item
Full title
Author / Creator
Yang, Yaping , Muzny, Donna M. , Reid, Jeffrey G. , Bainbridge, Matthew N. , Willis, Alecia , Ward, Patricia A. , Braxton, Alicia , Beuten, Joke , Xia, Fan , Niu, Zhiyv , Hardison, Matthew , Person, Richard , Bekheirnia, Mir Reza , Leduc, Magalie S. , Kirby, Amelia , Pham, Peter , Scull, Jennifer , Wang, Min , Ding, Yan , Plon, Sharon E. , Lupski, James R. , Beaudet, Arthur L. , Gibbs, Richard A. and Eng, Christine M.
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Alternative Titles
Full title
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Authors, Artists and Contributors
Author / Creator
Muzny, Donna M.
Reid, Jeffrey G.
Bainbridge, Matthew N.
Willis, Alecia
Ward, Patricia A.
Braxton, Alicia
Beuten, Joke
Xia, Fan
Niu, Zhiyv
Hardison, Matthew
Person, Richard
Bekheirnia, Mir Reza
Leduc, Magalie S.
Kirby, Amelia
Pham, Peter
Scull, Jennifer
Wang, Min
Ding, Yan
Plon, Sharon E.
Lupski, James R.
Beaudet, Arthur L.
Gibbs, Richard A.
Eng, Christine M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4211433
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4211433
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1306555
