Detalhe da pesquisa
1.
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Lancet
; 403(10427): 645-656, 2024 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38278170
2.
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Hum Genet
; 143(3): 455-469, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38526744
3.
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome.
Am J Med Genet A
; 194(6): e63550, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38297485
4.
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
Proc Natl Acad Sci U S A
; 116(2): 566-574, 2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30587587
5.
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
Breast Cancer Res Treat
; 181(2): 445-453, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32303989
6.
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Genet Med
; 22(3): 669, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31844176
7.
The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.
Breast Cancer Res Treat
; 178(1): 231-237, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31368036
8.
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
Mol Genet Metab
; 127(2): 138-146, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31130326
9.
Non-immune Hemolysis in Gaucher Disease and Review of the Literature.
Rambam Maimonides Med J
; 12(3)2021 Jul 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34270405
10.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Sci Adv
; 7(20)2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33980485
11.
The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy.
J Mol Neurosci
; 70(9): 1303-1312, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32720227