Detalhe da pesquisa
1.
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
J Hum Genet
; 69(3-4): 159-162, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38212463
2.
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Clin Genet
; 2024 Mar 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38515343
3.
Prevalence and molecular basis of null blood group phenotypes in the Korean population: Analysis using a public database.
Transfusion
; 64(1): 19-23, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38031501
4.
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.
J Med Genet
; 61(1): 57-60, 2023 Dec 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37558401
5.
Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.
J Clin Lab Anal
; 38(1-2): e25009, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-38234087
6.
Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.
Psychiatry Clin Neurosci
; 2024 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38751214
7.
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
Ann Hum Genet
; 86(6): 361-368, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36000290
8.
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
J Hum Genet
; 67(10): 601-606, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-35606502
9.
The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.
Genomics
; 113(6): 4136-4148, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34715294
10.
Application of Blood Group Genotyping by Next-Generation Sequencing in Various Immunohaematology Cases.
Transfus Med Hemother
; 49(2): 88-96, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-35611383
11.
Refractory ascites induced by mycophenolate in a pediatric kidney transplant patient.
Clin Nephrol
; 95(4): 215-220, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33560222
12.
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea.
J Korean Med Sci
; 35(30): e252, 2020 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32743991
13.
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Ann Hum Genet
; 83(3): 160-170, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30730578
14.
Genome-wide copy number alteration and VEGFA amplification of circulating cell-free DNA as a biomarker in advanced hepatocellular carcinoma patients treated with Sorafenib.
BMC Cancer
; 19(1): 292, 2019 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30935424
15.
Clinically significant maternal X chromosomal copy number variation detected by noninvasive prenatal test.
J Obstet Gynaecol Res
; 45(9): 1925-1928, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31215731
16.
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
J Hum Genet
; 63(3): 383-386, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29235540
17.
A case of inherited type 1 and type 2A von Willebrand disease confirmed by diagnostic exome sequencing.
Pediatr Blood Cancer
; 65(10): e27279, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29893454
18.
Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer.
Int J Gynecol Cancer
; 28(2): 308-315, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29240602
19.
Clinicopathologic characteristics of double primary endometrial and colorectal cancers in a single institution.
J Obstet Gynaecol Res
; 44(5): 944-950, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-29442399
20.
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
J Hum Genet
; 62(9): 815-818, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28515472