Detalhe da pesquisa
1.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Am J Hum Genet
; 90(1): 61-8, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22243965
2.
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Mol Genet Genomic Med
; 4(5): 527-539, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27957503
3.
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Eur J Hum Genet
; 24(12): 1730-1738, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27460420
4.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Eur J Hum Genet
; 23(12): 1646-51, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25804404
5.
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Eur J Hum Genet
; 23(12): 1750, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26559128