Detalhe da pesquisa
1.
Genomic analysis of inherited hearing loss in the Palestinian population.
Proc Natl Acad Sci U S A
; 117(33): 20070-20076, 2020 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32747562
2.
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
3.
Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
Epilepsia
; 60(6): e67-e73, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31111464
4.
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
Int J Cancer
; 141(4): 750-756, 2017 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28486781
5.
The GPSM2/LGN GoLoco motifs are essential for hearing.
Mamm Genome
; 27(1-2): 29-46, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26662512
6.
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.
J Med Genet
; 52(6): 391-9, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873734
7.
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.
Am J Hum Genet
; 87(1): 90-4, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20602914
8.
Serotype distribution and drug resistance in Streptococcus pneumoniae, Palestinian Territories.
Emerg Infect Dis
; 17(1): 94-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21192863
9.
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
J Clin Invest
; 125(11): 4295-304, 2015 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26485283
10.
Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.
Eur J Hum Genet
; 22(6): 768-75, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105371
11.
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Genome Biol
; 12(9): R89, 2011 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21917145