Detalhe da pesquisa
1.
Genetic Markers Among the Israeli Druze Minority Population With End-Stage Kidney Disease.
Am J Kidney Dis
; 83(2): 183-195, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37717846
2.
A novel loss-of-function mutation in LACC1 underlies hereditary juvenile arthritis with extended intra-familial phenotypic heterogeneity.
Rheumatology (Oxford)
; 60(10): 4888-4898, 2021 10 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33493343
3.
APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes.
J Am Soc Nephrol
; 28(4): 1117-1130, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27864431
4.
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Hum Genet
; 134(3): 305-14, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25560765
5.
Role of a Candida albicans Nrm1/Whi5 homologue in cell cycle gene expression and DNA replication stress response.
Mol Microbiol
; 84(4): 778-94, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22463761
6.
Endoplasmic reticulum-translocation is essential for APOL1 cellular toxicity.
iScience
; 25(1): 103717, 2022 Jan 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35072009
7.
Candida albicans cyclin Clb4 carries S-phase cyclin activity.
Eukaryot Cell
; 9(9): 1311-9, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20639412
8.
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
Front Immunol
; 12: 608604, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34248927
9.
Erratum to: Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
Hum Genet
; 134(3): 315, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25609191
10.
Alternative pathways of disulfide bond formation yield secretion-competent, stable and functional immunoglobulins.
Mol Immunol
; 46(1): 97-105, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18692901
11.
Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
J Clin Endocrinol Metab
; 102(12): 4604-4614, 2017 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29029121