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1.
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci
; 24(10)2023 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240244
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34288589
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33398081
4.
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Eur J Hum Genet
; 28(7): 938-942, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32055014
5.
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Hum Genome Var
; 6: 45, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31645983
6.
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Cold Spring Harb Mol Case Stud
; 5(6)2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31387860
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