Detalhe da pesquisa
1.
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
Ear Hear
; 37(1): 103-11, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331839
2.
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Am J Hum Genet
; 91(5): 883-9, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122587
3.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Am J Hum Genet
; 91(5): 872-82, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122586
4.
Similar phenotypes caused by mutations in OTOG and OTOGL.
Ear Hear
; 35(3): e84-91, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24378291
5.
Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.
Ann Otol Rhinol Laryngol
; 123(12): 859-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24963089
6.
Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness.
Breast Cancer Res
; 13(5): R107, 2011 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-22032731
7.
Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal.
Otol Neurotol
; 40(5S Suppl 1): S43-S50, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31225822
8.
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
Eur J Hum Genet
; 24(4): 542-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173970
9.
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Eur J Hum Genet
; 23(2): 189-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24781754
10.
TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
J Clin Invest
; 124(3): 1214-27, 2014 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24487590
11.
Radiologic confirmation of patulous eustachian tube by recumbent computed tomography.
Otol Neurotol
; 35(3): e117-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24270710