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1.
Liquid plasma promotes angiogenesis through upregulation of endothelial nitric oxide synthase-induced extracellular matrix metabolism: potential applications of liquid plasma for vascular injuries.
Cell Commun Signal
; 22(1): 138, 2024 02 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38374138
2.
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
3.
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
J Med Genet
; 59(5): 470-480, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33753533
4.
Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation.
Ear Hear
; 42(3): 644-653, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33928925
5.
Novel genotype-phenotype correlation of functionally characterized LMX1A variants linked to sensorineural hearing loss.
Hum Mutat
; 41(11): 1877-1883, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32840933
6.
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
7.
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Genet Med
; 22(6): 1119-1128, 2020 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-32203226
8.
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
9.
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
10.
Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing.
Am J Hum Genet
; 98(5): 843-856, 2016 05 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-27153396
11.
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans.
Int J Mol Sci
; 20(17)2019 Aug 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-31454969
12.
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
13.
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
14.
Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness.
BMC Med Genet
; 19(1): 29, 2018 02 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-29482514
15.
Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)-rearranged non-small cell lung cancer.
J Pathol
; 243(3): 307-319, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28741662
16.
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
17.
Precision medicine approaches to lung adenocarcinoma with concomitant MET and HER2 amplification.
BMC Cancer
; 17(1): 535, 2017 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28806950
18.
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
19.
Cancer-Specific Sequences in the Diagnosis and Treatment of NUT Carcinoma.
Cancer Res Treat
; 55(2): 452-467, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36265509
20.
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Sci Rep
; 12(1): 12457, 2022 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-35864128