Whole exome sequencing in patients with white matter abnormalities

Annals of Neurology

Volumn 79, Issue 6, 2016, Pages 1031-1037

  Vanderver, Adeline ^a,b   Simons, Cas ^c   Helman, Guy ^a   Crawford, Joanna ^c   Wolf, Nicole I ^d   Bernard, Geneviève ^e   Pizzino, Amy ^a   Schmidt, Johanna L ^a   Takanohashi, Asako ^a   Miller, David ^c,f   Khouzam, Amirah ^g   Rajan, Vani ^g   Ramos, Erica ^g   Chowdhury, Shimul ^g   Hambuch, Tina ^g   Ru, Kelin ^c   Baillie, Gregory J ^c   Grimmond, Sean M ^c,f   Caldovic, Ljubica ^a   Devaney, Joseph ^a   Bloom, Miriam ^a   Evans, Sarah H ^a   Murphy, Jennifer L P ^a   McNeill, Nathan ^h   Fogel, Brent L ⁱ   Schiffmann, Raphael ^h   Van Der Knaap, Marjo S ^d,j   Taft, Ryan J ^b,c,g   more..

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e MONTREAL CHILDREN S HOSPITAL   (Canada)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g ILLUMINA INC   (United States)

^h BAYLOR RESEARCH INSTITUTE   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j VU UNIVERSITY AMSTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; ALPHA INTERFERON; ATM PROTEIN; INITIATION FACTOR 2; LYSOSOME ENZYME; SUCCINATE DEHYDROGENASE; TELOMERASE REVERSE TRANSCRIPTASE; VERY LONG CHAIN FATTY ACID;

ARTICLE; CHROMOSOME ABERRATION; DARS GENE; EIF2B2 GENE; EIF2B5 GENE; EXOME; FEMALE; GENE; GENE SEQUENCE; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLR1C GENE; POLR3B GENE; PRIORITY JOURNAL; TUBB4A GENE; WHITE MATTER; WHITE MATTER LESION; ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; GENETICS; LEUKOENCEPHALOPATHIES; MUTATION; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MUTATION; WHITE MATTER; YOUNG ADULT;

EID: 84966602646     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24650     Document Type: Article

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