Mualla Çetin

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

LAD-1/variant syndrome is caused by mutations in FERMT3

Taco W. Kuijpers, Edith van de Vijver, Marian A. J. Weterman et al. · Blood · 2008 · 221 citations · Full text

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

Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Stephan M. Tanner, Zhongyuan Li, James D. Perko et al. · Proceedings of the National Academy of Sciences · 2005 · 106 citations · Full text

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran et al. · The Journal of Rheumatology · 2019 · 99 citations