Nehama Cohen Kfir

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux et al. · Nature Genetics · 2011 · 255 citations · Full text

Blood Platelet, Genetics, Pathogenesis +8

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük et al. · Blood · 2010 · 153 citations · Full text

A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis

Yifat Zivony-Elboum, Wendy Westbroek, Nehama Cohen Kfir et al. · Journal of Medical Genetics · 2012 · 79 citations

Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the <i>NTRK1</i> gene

Celia Suriu, Morad Khayat, Markus Weiler et al. · Clinical Genetics · 2009 · 15 citations

Genetics, Genetic Epidemiology, Molecular Genetics +18

<scp>COG6‐CDG</scp> : Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development

Hanna Mandel, Nehama Cohen Kfir, Ayalla Fedida et al. · Clinical Genetics · 2020 · 15 citations