Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- Author
- YAPING YANG1 ; MUZNY, Donna M3 ; HARDISON, Matthew1 ; PERSON, Richard1 ; MIR REZA BEKHEIRNIA1 ; LEDUC, Magalie S1 ; KIRBY, Amelia1 ; PHAM, Peter3 ; SCULL, Jennifer1 ; MIN WANG3 ; YAN DING3 ; PLON, Sharon E1 2 ; REID, Jeffrey G3 ; LUPSKI, James R1 2 3 ; BEAUDET, Arthur L1 ; GIBBS, Richard A3 ; ENG, Christine M1 ; BAINBRIDGE, Matthew N3 ; WILLIS, Alecia1 ; WARD, Patricia A1 ; BRAXTON, Alicia1 ; BEUTEN, Joke1 ; FAN XIA1 ; NIU, Zhiyv1
[1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States
[2] Department of Pediatrics, Baylor College of Medicine, Houston, United States
[3] Department of Human Genome Sequencing Center, Baylor College of Medicine, Houston, United States - Source
The New England journal of medicine. 2013, Vol 369, Num 16, pp 1502-1511, 10 p ; ref : 35 ref
- CODEN
- NEJMAG
- ISSN
- 0028-4793
- Scientific domain
- General medicine general surgery
- Publisher
- Massachusetts Medical Society, Waltham, MA
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diagnostic Médecine Séquence nucléotide Séquençage
- Keyword (en)
- Diagnosis Medicine Nucleotide sequence Sequencing
- Keyword (es)
- Diagnóstico Medicina Secuencia nucleótido Sequencing
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 27775007
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1056/NEJMoa1306555 
https://dx.doi.org/10.1056/NEJMoa1306555
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