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, +21

Nature Genetics

Blood PlateletGeneticsPathogenesisHematologyBlood Cell +6

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

Taco W. Kuijpers, Edith van de Vijver, Marian A. J. Weterman, +12

Blood

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

Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, +33

Blood

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

Stephan M. Tanner, Zhongyuan Li, James D. Perko, +9

Proceedings of the National Academy of Sciences

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

Seza Özen, Ezgi Deniz Batu, Ekim Z. Taşkıran, +11

The Journal of Rheumatology

Genetically heterogeneous selective intestinal malabsorption of vitamin B₁₂: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East

Stephan M. Tanner, Zhong-Yuan Li, Ryan Bisson, +11

Human Mutation

Macrophage activation syndrome in children with systemic juvenile idiopathic arthritis and systemic lupus erythematosus

Selin Aytaç, Ezgi Deniz Batu, Şule Ünal, +5

Rheumatology International

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Early-onset chronic axonal neuropathy, strokes, and hemolysis

Göknur Haliloğlu, Jérôme Maluenda, Bahattin Sayinbatur, +7

Neurology

Nonradioactive Vitamin B12 Absorption Test Evaluated in Controls and in Patients with Inherited Malabsorption of Vitamin B12

Mustafa Vakur Bor, Mualla Çetin, Selin Aytaç, +1

Clinical Chemistry

Alternative algorithm for L-asparaginase allergy in children with acute lymphoblastic leukemia

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Journal of Allergy and Clinical Immunology

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