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1.
Genotype-Phenotype Correlations in Chronic Granulomatous Disease: Insights From a Large National Cohort.
Blood
; 2024 Jun 21.
Article
in English
| MEDLINE | ID: mdl-38905634
2.
A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
J Clin Immunol
; 40(1): 211-222, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31838659
3.
Leucocyte adhesion deficiency-A multicentre national experience.
Eur J Clin Invest
; 49(2): e13047, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-30412664
4.
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
J Clin Immunol
; 38(4): 527-536, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29948574
5.
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.
J Med Genet
; 54(8): 558-566, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28331068
6.
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.
Am J Hematol
; 92(1): 28-36, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27701760
7.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
J Clin Immunol
; 34(8): 904-9, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25135595
8.
Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency.
Haematologica
; 100(2): e72-6, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25398835
9.
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.
Immunol Res
; 64(2): 476-82, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26434744
10.
Epstein-Barr virus-associated smooth muscle tumors in ataxia-telangiectasia: a case report and review.
Hum Pathol
; 33(1): 133-6, 2002 Jan.
Article
in English
| MEDLINE | ID: mdl-11823985
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