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eNauka >  Results >  Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Title: Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Authors: Stray-Pedersen, Asbjørg; Cobben, Jan-Maarten; Prescott, Trine E.; Lee, Sora; Cang, Chunlei; Aranda, Kimberly; Ahmed, Sohnee; Alders, Marielle; Gerstner, Thorsten; Aslaksen, Kathinka;
Tétreault, Martine; Qin, Wen; Hartley, Taila; Jhangiani, Shalini N.; Muzny, Donna M.; Tarailo Graovac, Maja ; van Karnebeek, Clara D.M.; Lupski, James R.; Ren, Dejian; Yoon, Grace;
Issue Date: 2016
Publication: The American Journal of Human Genetics
ISSN: 0002-9297 American Journal of Human Genetics Search Idenfier
Type: Article
Collation: vol. 98 br. 1 str. 202-209
DOI: 10.1016/j.ajhg.2015.11.004
WoS-ID: 000368050800014
Scopus-ID: 2-s2.0-84954270776
PMID: 26708751
PMCID: PMC4716670
URI: https://enauka.gov.rs/handle/123456789/222062
Metadata source: Migrirano iz RIS podataka
M-category: 
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