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Page 1
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
Stepensky P, Chacón-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Méndez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sánchez-Puig N, Elpeleg O. Stepensky P, et al. Among authors: abuzaitoun o. J Med Genet. 2017 Aug;54(8):558-566. doi: 10.1136/jmedgenet-2016-104366. Epub 2017 Mar 22. J Med Genet. 2017. PMID: 28331068
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K. Stepensky P, et al. Among authors: abuzaitoun o. J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9. J Clin Immunol. 2018. PMID: 29948574
Leucocyte adhesion deficiency-A multicentre national experience.
Wolach B, Gavrieli R, Wolach O, Stauber T, Abuzaitoun O, Kuperman A, Amir Y, Stepensky P, Somech R, Etzioni A. Wolach B, et al. Among authors: abuzaitoun o. Eur J Clin Invest. 2019 Feb;49(2):e13047. doi: 10.1111/eci.13047. Epub 2019 Jan 4. Eur J Clin Invest. 2019. PMID: 30412664
Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.
Wolach B, Gavrieli R, Wolach O, Salamon P, de Boer M, van Leeuwen K, Abuzaitoun O, Broides A, Gottesman G, Grisaru-Soen G, Hagin D, Marcus N, Rottem M, Schlesinger Y, Stauber T, Stepensky P, Dinur-Schejter Y, Zeeli T, Hanna S, Etzioni A, Frizinsky S, Somech R, Roos D, Lachover-Roth I. Wolach B, et al. Among authors: abuzaitoun o. Blood. 2024 Sep 19;144(12):1300-1313. doi: 10.1182/blood.2023022590. Blood. 2024. PMID: 38905634
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J. Martínez-Barricarte R, et al. Among authors: abuzaitoun o. J Clin Immunol. 2014 Nov;34(8):904-9. doi: 10.1007/s10875-014-0085-5. Epub 2014 Aug 19. J Clin Immunol. 2014. PMID: 25135595 Free PMC article.
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.
Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, Ben Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Abuzaitoun O, Marcus N, Zion Garty B, Broides A, Levy J, Stepansky P, Etzioni A, Somech R, Roos D. Wolach B, et al. Among authors: abuzaitoun o. Am J Hematol. 2017 Jan;92(1):28-36. doi: 10.1002/ajh.24573. Epub 2016 Nov 18. Am J Hematol. 2017. PMID: 27701760 Free article.
12 results