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1.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Article
in English
| MEDLINE | ID: mdl-31495489
2.
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Clin Genet
; 101(5-6): 517-529, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35315053
3.
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.
Article
in English
| MEDLINE | ID: mdl-33111345
4.
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Genet Med
; 21(11): 2442-2452, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31160754
5.
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Harefuah
; 156(4): 212-216, 2017 Apr.
Article
in Hebrew
| MEDLINE | ID: mdl-28551919
6.
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Mol Genet Metab
; 117(1): 38-41, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26653794
7.
Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?
Fetal Diagn Ther
; 39(1): 50-5, 2016.
Article
in English
| MEDLINE | ID: mdl-26043788
8.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Eur J Hum Genet
; 29(6): 988-997, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33398081
9.
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.
Prenat Diagn
; 30(12-13): 1131-7, 2010 Dec.
Article
in English
| MEDLINE | ID: mdl-20925131
10.
Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.
Eur J Hum Genet
; 15(2): 250-3, 2007 Feb.
Article
in English
| MEDLINE | ID: mdl-17149387
11.
The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.
Genet Test Mol Biomarkers
; 18(2): 123-6, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24367894
12.
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.
Article
in English
| MEDLINE | ID: mdl-24105371
13.
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.
Article
in English
| MEDLINE | ID: mdl-21917145
14.
Amniotic trisomy 11 mosaicism--is it a benign finding?
Prenat Diagn
; 26(9): 778-81, 2006 Sep.
Article
in English
| MEDLINE | ID: mdl-16810710
15.
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.
Int J Biometeorol
; 50(1): 1-5, 2005 Sep.
Article
in English
| MEDLINE | ID: mdl-15988607
16.
Prenatal diagnosis of Down syndrome: ten year experience in the Israeli population.
Am J Med Genet A
; 122A(3): 215-22, 2003 Oct 15.
Article
in English
| MEDLINE | ID: mdl-12966521
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