Detalhe da pesquisa
1.
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.
Hum Genet
; 141(3-4): 431-444, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278131
2.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Hum Mutat
; 42(5): 592-599, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33600035
3.
Diagnostic yield of multigene panel testing in an Israeli cohort: enrichment of low-penetrance variants.
Breast Cancer Res Treat
; 181(2): 445-453, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32303989
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 rare 13q33-q34 microdeletions: eight new patients and review of the literature.
Hum Genet
; 138(10): 1145-1153, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321490
6.
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
7.
Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
Neurogenetics
; 18(3): 141-146, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28620870
8.
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.
Am J Med Genet A
; 164A(8): 1940-6, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24788350
9.
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Cancers (Basel)
; 16(1)2023 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38201524
10.
Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.
Am J Med Genet A
; 158A(6): 1395-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585544
11.
Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.
J Genet Couns
; 21(4): 557-63, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22109111
12.
Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.
Am J Med Genet A
; 155A(12): 2991-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22052843
13.
Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.
Fetal Diagn Ther
; 30(4): 309-13, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21997517
14.
Prenatal clubfoot increases the risk for clinically significant chromosomal microarray results - Analysis of 269 singleton pregnancies.
Early Hum Dev
; 145: 105047, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32339917
15.
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.
Am J Med Genet A
; 149A(5): 868-76, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19353582
16.
Non-visualization of fetal gallbladder in microarray era - a retrospective cohort study and review of the literature.
J Matern Fetal Neonatal Med
; 32(16): 2643-2648, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455582
17.
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?
Eur J Paediatr Neurol
; 12(2): 97-101, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17681808
18.
Congenital patent ductus venosus: an association with the hyper IgE syndrome.
J Pediatr
; 150(2): 210-2, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17236905
19.
A benign congenital myopathy in an inbred Samaritan family.
Eur J Paediatr Neurol
; 10(4): 182-5, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16959509
20.
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.
Eur J Hum Genet
; 24(12): 1792-1796, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27601210