Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Author(s) -
Hanyin Cheng,
Leah Gottlieb,
Elaine Marchi,
Robert Kleyner,
Puja Bhardwaj,
Alan F. Rope,
Sarah Rosenheck,
Sébastien Moutton,
Christophe Philippe,
Wafaa Eyaid,
Fowzan S. Alkuraya,
Janet Toribio,
Rafael Mena,
Carlos E. Prada,
Holly A.F. Stessman,
Raphael Bernier,
Marieke Wermuth,
Brice Kauffmann,
Bettina Blaumeiser,
R. Frank Kooy,
Diana Baralle,
Grazia M.S. Mancini,
Simon J. Conway,
Fan Xia,
Zhao Chen,
Linyan Meng,
Ljubisa Mihajlovic,
Ronen Marmorstein,
Gholson J. Lyon
Publication year - 2020
Publication title -
human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddz173
Subject(s) - cohort , phenotype , biology , genetics , gene , medicine
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