Detalhe da pesquisa
1.
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Hum Mutat
; 33(1): 104-8, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22009552
2.
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Am J Med Genet A
; 173(5): 1444-1446, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371320