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1.
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
Proc Natl Acad Sci U S A
; 118(22)2021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34050020
2.
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
Hum Mutat
; 41(5): 913-920, 2020 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31944473
3.
Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy.
J Med Genet
; 56(12): 818-827, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31473629
4.
Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
Hum Mutat
; 40(5): 525-531, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740825
5.
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
Cerebellum
; 18(3): 659-664, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-30635863
6.
A clinical guidance to DFNA22 drawn from a Korean cohort study with an autosomal dominant deaf population: A retrospective cohort study.
J Gene Med
; 20(6): e3019, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29607572
7.
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics.
J Transl Med
; 16(1): 330, 2018 11 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-30482216
8.
Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
J Gene Med
; 19(4)2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-28221712
9.
PCA22 acts as a suppressor of atrzf1 to mediate proline accumulation in response to abiotic stress in Arabidopsis.
J Exp Bot
; 68(7): 1797-1809, 2017 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28369480
10.
Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology.
Ear Hear
; 38(5): e316-e324, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28841141
11.
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Int J Mol Sci
; 18(11)2017 Oct 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29072634
12.
Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
J Gene Med
; 18(11-12): 353-358, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27886419
13.
Isolation and identification of Malassezia species from Chinese and Korean patients with seborrheic dermatitis and in vitro studies on their bioactivity on sebaceous lipids and IL-8 production.
Mycoses
; 59(5): 274-80, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26786542
14.
Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.
Eur Arch Otorhinolaryngol
; 273(5): 1123-9, 2016 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-26015337
15.
Distinct vestibular phenotypes in DFNA9 families with COCH variants.
Eur Arch Otorhinolaryngol
; 273(10): 2993-3002, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26758463
16.
Long-type double-balloon enteroscopy-assisted ERCP using hand-made accessories in Roux-en-Y hepaticojejunostomy (with video).
Hepatobiliary Pancreat Dis Int
; 20(4): 407-408, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34006461
17.
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
J Transl Med
; 13: 263, 2015 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-26264712
18.
Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.
Genet Med
; 17(11): 901-11, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25719458
19.
Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.
Audiol Neurootol
; 20(1): 17-25, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25413827
20.
Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
Audiol Neurootol
; 19(5): 319-26, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25358692