Detalles de la búsqueda
1.
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Int J Mol Sci
; 23(21)2022 Nov 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36362242
2.
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Genes (Basel)
; 14(4)2023 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37107686
3.
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Biomolecules
; 13(10)2023 10 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37892203
4.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Biomolecules
; 11(1)2021 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33466560
5.
Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
Diagnostics (Basel)
; 11(12)2021 Dec 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34943614
6.
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.
Genes (Basel)
; 11(7)2020 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32708339
7.
Unique Mutational Spectrum of the GJB2 Gene and its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys).
Genes (Basel)
; 10(6)2019 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31195736
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