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1.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34148116
2.
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
Int J Mol Sci
; 21(1)2020 Jan 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31906439
3.
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(3): 279-280, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29435658
4.
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
Hum Genet
; 137(2): 111-127, 2018 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-29305691
5.
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
BMC Med Genet
; 19(1): 81, 2018 05 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29776397
6.
Epithelioid and spindle cell rhabdomyosarcoma with EWSR1::TFCP2 fusion mimicking metastatic lung cancer: A case report and literature review.
Pathol Res Pract
; 249: 154779, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37633005
7.
mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat.
Life (Basel)
; 13(9)2023 Sep 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37763262
8.
Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.
Hear Res
; 397: 107906, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32063424
9.
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Mol Genet Genomic Med
; 8(8): e1343, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32519820
10.
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
Genes (Basel)
; 11(11)2020 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33187236
11.
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Eur J Med Genet
; 62(10): 103724, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31315069
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