Detalhe da pesquisa
1.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
J Med Genet
; 60(11): 1133-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460201
2.
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Harefuah
; 162(6): 344-351, 2023 Jun.
Artigo
em Hebraico
| MEDLINE | ID: mdl-37394435
3.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
J Hum Genet
; 66(11): 1101-1112, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980986
4.
Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.
Clin Genet
; 98(4): 353-364, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111345
5.
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
em Inglês
| MEDLINE | ID: mdl-31368036
6.
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Brain
; 140(2): 370-386, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007986
7.
[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Harefuah
; 156(3): 156-162, 2017 Mar.
Artigo
em Hebraico
| MEDLINE | ID: mdl-28551940
8.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Am J Ophthalmol
; 258: 183-195, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37972748
9.
National Rapid Genome Sequencing in Neonatal Intensive Care.
JAMA Netw Open
; 7(2): e240146, 2024 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386321
10.
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.
Mol Genet Genomic Med
; 10(1): e1849, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34970863
11.
Familial Early-Onset Alzheimer's Caused by Novel Genetic Variant and APP Duplication: A Cross-Sectional Study.
Curr Alzheimer Res
; 19(10): 694-707, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36278440
12.
Vici syndrome in Israel: Clinical and molecular insights.
Front Genet
; 13: 991721, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204321
13.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
HGG Adv
; 3(3): 100111, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571680
14.
Hypoadrenalism as the Single Presentation of Autoimmune Polyglandular Syndrome Type 1.
J Endocr Soc
; 5(12): bvab151, 2021 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877443
15.
Microarray analysis in pregnancies with isolated echogenic bowel.
Early Hum Dev
; 119: 25-28, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29522884