Detalhe da pesquisa
1.
The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
J Biosoc Sci
; 55(1): 169-173, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866563
2.
Multidomain Cognitive Impairment in Children With Pseudotumor Cerebri Syndrome.
J Neuroophthalmol
; 42(1): e93-e98, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999654
3.
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Brain
; 142(6): 1528-1534, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31009037
4.
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Am J Med Genet A
; 179(7): 1338-1345, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31102500
5.
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
J Inherit Metab Dis
; 42(2): 264-275, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30689204
6.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
7.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Am J Med Genet A
; 173(4): 1051-1055, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328138
8.
CHANGES IN MARRIAGE PATTERNS AMONG THE ARAB COMMUNITY IN ISRAEL OVER A 60-YEAR PERIOD.
J Biosoc Sci
; 48(2): 283-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25997496
9.
Clinical Profile of Attention Deficit Hyperactivity Disorder: Impact of Ethnic and Social Diversities in Israel.
Isr Med Assoc J
; 18(6): 322-5, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27468523
10.
Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
Mol Vis
; 21: 306-15, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25814828
11.
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Brain
; 137(Pt 2): 411-9, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24369382
12.
Factors affecting the utilization of genetic counseling services among Israeli Arab women.
Prenat Diagn
; 35(4): 370-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512120
13.
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
Genes (Basel)
; 14(5)2023 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239392
14.
High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome.
Children (Basel)
; 10(7)2023 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508619
15.
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Genes (Basel)
; 13(8)2022 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36011304
16.
The Current and Forecasted Status of Type 2 Diabetes in the Arab Society of Israel.
Curr Diabetes Rev
; 17(8): e050421192659, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820521
17.
The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children.
J Atten Disord
; 24(8): 1125-1131, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28367712
18.
Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation.
Front Genet
; 11: 582796, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33193710
19.
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.
Eur J Hum Genet
; 28(6): 742-753, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31896775
20.
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Eur J Hum Genet
; 28(8): 1034-1043, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32214227