Detalhe da pesquisa
1.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
PLoS Genet;
11(3): e1005097, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25807530
2.
Hypoxia-reoxygenation-induced endothelial barrier failure: role of RhoA, Rac1 and myosin light chain kinase.
J Physiol;
591(2): 461-73, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23090948
3.
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Hum Mutat;
29(4): 502-11, 2008 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18181211
4.
The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
Hum Genet;
122(5): 445-50, 2007 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17690910
5.
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness.
Am J Hum Genet;
78(1): 137-43, 2006 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16385457
6.
A new locus for nonsyndromic deafness DFNB51 maps to chromosome 11p13-p12.
Am J Med Genet A;
138(4): 392-5, 2005 Nov 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16158433