Detalhe da pesquisa
1.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Hum Genet
; 138(1): 61-72, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535804
2.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
3.
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hum Mutat
; 23(1): 57-66, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14695533