Detalhe da pesquisa
1.
Screening of potential novel candidate genes in schwannomatosis patients.
Hum Mutat
; 43(10): 1368-1376, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35723634
2.
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
BMC Med Genet
; 17: 1, 2016 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26729329
3.
Extensive gene conversion at the PMS2 DNA mismatch repair locus.
Hum Mutat
; 28(5): 424-30, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253626
4.
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.
Genet Test Mol Biomarkers
; 16(5): 453-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22288896
5.
Low prevalence of DFNB1 (connexin 26) mutations in British Pakistani children with non-syndromic sensorineural hearing loss.
Arch Dis Child
; 96(9): 798-803, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21586435