Detalhe da pesquisa
1.
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.
Hum Mutat
; 41(5): 913-920, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944473
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-31473629
3.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet
; 98(6): 1243-1248, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236923
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635863
5.
Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
Brief Bioinform
; 17(2): 185-92, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26210357
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-30482216
7.
Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients and Utility for Biomarker-Selected Clinical Trials.
Oncologist
; 22(10): 1169-1177, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28701572
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29072634
9.
Deciphering intratumor heterogeneity using cancer genome analysis.
Hum Genet
; 135(6): 635-42, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27126234
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27886419
11.
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Genet Med
; 18(6): 563-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26402641
12.
Hepatorenal fibrocystic diseases in children.
Pediatr Nephrol
; 31(1): 113-9, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260382
13.
The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.
BMC Genomics
; 16: 515, 2015 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26155838
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264712
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25719458
16.
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
J Hum Genet
; 60(4): 213-5, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25608830
17.
Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).
Am J Med Genet A
; 167A(5): 1033-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728306
18.
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
Pediatr Nephrol
; 30(9): 1451-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25726036
19.
Atypical hemolytic uremic syndrome: Korean pediatric series.
Pediatr Int
; 57(3): 431-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25443527
20.
Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. J. Clin. Med. 2020, 9, 2013.
J Clin Med
; 11(11)2022 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35683636