Detalhe da pesquisa
1.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Mol Vis
; 29: 1-12, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37287645
2.
The effect of a prior e-learning tool on genetic counseling outcomes in diverse ethnic couples with abnormal Down syndrome screening tests: A randomized controlled trial.
J Genet Couns
; 2023 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632224
3.
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor.
Exp Dermatol
; 31(5): 775-780, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34913528
4.
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Clin Genet
; 100(5): 522-528, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297361
5.
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
6.
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
J Med Genet
; 53(2): 127-31, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26561570
7.
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
Am J Hum Genet
; 92(1): 144-9, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23273569
8.
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Am J Med Genet A
; 170A(1): 176-82, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26364997
9.
KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Am J Med Genet A
; 170(10): 2632-7, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27151206
10.
Marriage patterns and reproductive decision-making in the inhabitants of a single Muslim village during a 50-year period.
Hum Hered
; 77(1-4): 10-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060265
11.
NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Am J Hum Genet
; 88(1): 106-14, 2011 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211617
12.
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Pediatr Diabetes
; 15(3): 252-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24138066
13.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nat Genet
; 37(12): 1345-50, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16311597
14.
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population.
J Community Genet
; 15(2): 137-146, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114746
15.
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
Am J Hum Genet
; 87(2): 258-64, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20655036
16.
Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.
Am J Hum Genet
; 86(5): 783-8, 2010 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398884
17.
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
Eur J Clin Invest
; 43(1): 72-8, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23176518
18.
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
J Med Genet
; 49(7): 473-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791840
19.
Extreme clinical variability of dilated cardiomyopathy in two siblings with Alström syndrome.
Pediatr Cardiol
; 34(2): 455-8, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22447358
20.
A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
Mol Vis
; 18: 2915-21, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23233793