Detalhe da pesquisa
1.
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
J Hum Genet
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824232
2.
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Am J Hematol
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562044
3.
Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease.
Mol Ther
; 31(4): 1002-1016, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755495
4.
Variable allelic expression of imprinted genes in human pluripotent stem cells during differentiation into specialized cell types in vitro.
Biochem Biophys Res Commun
; 446(2): 493-8, 2014 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613840
5.
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Mol Genet Genomic Med
; 12(4): e2430, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581121
6.
Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).
Stem Cell Res
; 66: 103001, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36516658
7.
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing.
Mol Ther Nucleic Acids
; 31: 586-595, 2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36910714
8.
Genetic heterogeneity of cardiomyopathy and its correlation with patient care.
BMC Med Genomics
; 16(1): 270, 2023 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904158
9.
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
10.
Case Report: Mevalonic Aciduria Complicated by Acute Myeloid Leukemia After Hematopoietic Stem Cell Transplantation.
Front Immunol
; 12: 782780, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34950147
11.
Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.
Stem Cell Reports
; 16(8): 1985-1998, 2021 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34242618
12.
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
13.
Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
EBioMedicine
; 52: 102633, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31981984
14.
Generation of PDGFRα+ Cardioblasts from Pluripotent Stem Cells.
Sci Rep
; 7: 41840, 2017 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28165490
15.
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
Clin Transl Med
; 12(5): e862, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35593204
16.
Transcriptional Profiles of Imprinted Genes in Human Embryonic Stem Cells During In vitro Differentiation.
Int J Stem Cells
; 7(2): 108-17, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25473448