Detalhe da pesquisa
1.
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Proc Natl Acad Sci U S A
; 117(49): 31278-31289, 2020 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33229591
2.
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Orphanet J Rare Dis
; 6: 21, 2011 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21569298
3.
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.
Int J Pediatr Otorhinolaryngol
; 74(9): 1049-53, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621367