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1.
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Am J Hum Genet
; 2024 May 10.
Article
in English
| MEDLINE | ID: mdl-38744284
2.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Article
in English
| MEDLINE | ID: mdl-34059922
3.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv
; 2024 Jan 17.
Article
in English
| MEDLINE | ID: mdl-38293053
4.
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss.
Front Genet
; 10: 142, 2019.
Article
in English
| MEDLINE | ID: mdl-30863428
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