Detalhe da pesquisa
1.
Cause, severity, and efficacy of treatment for hearing loss in children with Trisomy 18: A single institution-based retrospective study.
Am J Med Genet A
; 194(4): e63492, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38062644
2.
Treatment following Triple-AAV Delivery in Mature Murine Model of Human CDH23-Associated Hearing Loss.
Curr Issues Mol Biol
; 45(12): 9413-9421, 2023 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38132436
3.
Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 865-875, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34536124
4.
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Am J Med Genet A
; 188(9): 2560-2575, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822426
5.
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Hum Genet
; 139(10): 1315-1323, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32382995
6.
Targeted Allele Suppression Prevents Progressive Hearing Loss in the Mature Murine Model of Human TMC1 Deafness.
Mol Ther
; 27(3): 681-690, 2019 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30686588
7.
Correction to: Detailed clinical features and genotype-phenotype correlation in an OTOF-related hearing loss cohort in Japan.
Hum Genet
; 141(3-4): 993-995, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34727261
8.
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
J Hum Genet
; 61(5): 419-22, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26791358
9.
Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 94S-9S, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25743179
10.
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 77S-83S, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25743180
11.
Gene expression profiles of the cochlea and vestibular endorgans: localization and function of genes causing deafness.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 6S-48S, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25814645
12.
USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
Ann Otol Rhinol Laryngol
; 124 Suppl 1: 123S-8S, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25743181
13.
Temporal Swelling Following Cochlear Implantation: Frequency, Treatment, and Outcomes.
Otol Neurotol
; 45(5): e400-e405, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573599
14.
Epidemiology, aetiology and diagnosis of congenital hearing loss via hearing screening of 153â913 newborns.
Int J Epidemiol
; 53(3)2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38609324
15.
OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.
BMC Med Genet
; 14: 95, 2013 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053799
16.
A case of hematohidrosis successfully treated with a beta-blocker.
Clin Case Rep
; 11(6): e7337, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37255615
17.
The relationship between preoperative factors and the pattern of longitudinal improvement in speech perception following cochlear implantation.
Acta Otolaryngol
; 143(5): 402-407, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37083037
18.
Determining optimal cochlear implant electrode array with OTOPLAN.
Acta Otolaryngol
; 143(9): 748-752, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37737708
19.
Feasibility and limitations of head MRI in patients with cochlear implants.
Auris Nasus Larynx
; 50(6): 874-879, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076340
20.
Enhanced Cochlear Transduction by AAV9 with High-Concentration Sucrose.
Hum Gene Ther
; 34(19-20): 1064-1071, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642269