Detalhe da pesquisa
1.
Development and verification of the Korean version of the genetic counseling self-efficacy scale.
J Genet Couns
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38845411
2.
Survey of patient satisfaction with genetic counseling services in Korea.
J Genet Couns
; 2024 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769825
3.
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Mol Med
; 28(1): 38, 2022 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346031
4.
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.
J Med Genet
; 58(11): 767-777, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051312
5.
Clinical and molecular spectra of BRAF-associated RASopathy.
J Hum Genet
; 66(4): 389-399, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040082
6.
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Clin Genet
; 98(6): 562-570, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901917
7.
Biochemical and molecular characterisation of neurological Wilson disease.
J Med Genet
; 55(9): 587-593, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618506
8.
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
J Med Genet
; 54(11): 771-780, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28835480
9.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
BMC Pediatr
; 18(1): 103, 2018 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519241
10.
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Mol Med
; 22: 147-155, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933843
11.
Incorporating Mobility in Growth Modeling for Multilevel and Longitudinal Item Response Data.
Multivariate Behav Res
; 51(1): 120-37, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26881961
12.
Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.
J Hum Genet
; 59(5): 276-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24621582
13.
High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.
Mol Genet Metab
; 108(1): 18-24, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246278
14.
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
J Hum Genet
; 58(9): 604-10, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23803580
15.
Avoiding zero between-study variance estimates in random-effects meta-analysis.
Stat Med
; 32(23): 4071-89, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23670939
16.
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.
Mol Genet Genomic Med
; 11(4): e2127, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564961
17.
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.
Orphanet J Rare Dis
; 17(1): 24, 2022 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093157
18.
Clinical and genetic analyses of patients with lateralized overgrowth.
BMC Med Genomics
; 15(1): 206, 2022 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175890
19.
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.
Medicine (Baltimore)
; 101(28): e29424, 2022 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838999
20.
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea.
BMC Med Genomics
; 14(1): 254, 2021 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706719