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1.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Am J Hum Genet
; 108(10): 2006-2016, 2021 10 07.
Article
in English
| MEDLINE | ID: mdl-34626583
2.
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
3.
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome.
JCI Insight
; 7(18)2022 09 22.
Article
in English
| MEDLINE | ID: mdl-36134655
4.
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss.
Front Genet
; 12: 737782, 2021.
Article
in English
| MEDLINE | ID: mdl-34733312
5.
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Mol Genet Genomic Med
; 9(8): e1756, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34288589
6.
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
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