Concepedia
Statistics
Publications
29
Citations
1.3K
H-Index
18
Active since
1998
Affiliations
National Research Centre(Current)
National Human Genome Research Institute
University of California San Diego
Howard Hughes Medical Institute
Alfaisal University
Samira Ismail is an author at National Research Centre specializing in genetics, human genetics, and life sciences.
Publications per year
1998–2020
Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy et al. · Genome biology · 2015 · 199 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
Yun Li, Barbara Pawlik, Nursel Elçioğlu et al. · The American Journal of Human Genetics · 2010 · 167 citations · Full text
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 136 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
David Monk, Louise Bentley, Megan P. Hitchins et al. · Human Genetics · 2002 · 91 citations
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Hongda Li, Stephanie Bielas, Maha S. Zaki et al. · The American Journal of Human Genetics · 2016 · 82 citations · Full text
Life Sciences, Genetics, Molecular Genetics +12
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