Detalles de la búsqueda
1.
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
BMC Genomics
; 25(1): 359, 2024 Apr 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-38605287
2.
Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment.
Ear Hear
; 45(1): 250-256, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-37677959
3.
Genetic etiology of non-syndromic hearing loss in Europe.
Hum Genet
; 141(3-4): 683-696, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35044523
4.
Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Ear Hear
; 42(6): 1627-1639, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33908410
5.
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
J Transl Med
; 17(1): 290, 2019 08 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31455392
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-23122587
7.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Pediatr Res
; 78(1): 97-102, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25785835
8.
Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects.
Biomedicines
; 11(11)2023 Oct 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-38001944
9.
Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Genes (Basel)
; 13(1)2022 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35052489
10.
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.
Eur J Hum Genet
; 23(2): 189-94, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24781754
Resultados
1 -
10
de 10
1
Próxima >
>>