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1.
Suppression of UVB-Induced MMP-1 Expression in Human Skin Fibroblasts Using Lysate of Lactobacillus iners Derived from Korean Women's Skin in Their Twenties.
Curr Issues Mol Biol
; 46(1): 513-526, 2024 Jan 04.
Artículo
Inglés
| MEDLINE | ID: mdl-38248335
2.
Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
Clin Genet
; 99(2): 236-249, 2021 02.
Artículo
Inglés
| MEDLINE | ID: mdl-33095447
3.
Ensemble Effect in Bimetallic Electrocatalysts for CO2 Reduction.
J Am Chem Soc
; 141(42): 16635-16642, 2019 Oct 23.
Artículo
Inglés
| MEDLINE | ID: mdl-31509393
4.
Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.
J Hum Genet
; 61(2): 143-9, 2016 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-26490183
5.
Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.
Anal Bioanal Chem
; 408(9): 2265-74, 2016 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-26873218
6.
A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
J Korean Med Sci
; 30(4): 378-84, 2015 Apr.
Artículo
Inglés
| MEDLINE | ID: mdl-25829804
7.
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
J Hum Genet
; 59(9): 488-93, 2014 Sep.
Artículo
Inglés
| MEDLINE | ID: mdl-25078357
8.
Synthesis and PGE2 production inhibition of s-triazine derivatives as a novel scaffold in RAW 264.7 macrophage cells.
Bioorg Med Chem Lett
; 24(23): 5418-22, 2014 Dec 01.
Artículo
Inglés
| MEDLINE | ID: mdl-25453800
9.
Oral Pyridostigmine-responsive Visceral Myopathy With ACTG2 Mutations: A Case Series.
J Pediatr Gastroenterol Nutr
; 68(1): e16-e17, 2019 Jan.
Artículo
Inglés
| MEDLINE | ID: mdl-30334933
10.
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Yonsei Med J
; 65(1): 48-54, 2024 Jan.
Artículo
Inglés
| MEDLINE | ID: mdl-38154480
11.
A case of extrinsic compression of the left main coronary artery secondary to pulmonary artery dilatation.
J Korean Med Sci
; 28(10): 1543-8, 2013 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-24133364
12.
Polyphenols Coordinated with Cu (II) in an Aqueous System Build Ion-Channel Coatings on Hair Surfaces.
Materials (Basel)
; 16(4)2023 Feb 04.
Artículo
Inglés
| MEDLINE | ID: mdl-36836964
13.
KMD: Korean Mutation Database for genes related to diseases.
Hum Mutat
; 33(4): E2332-40, 2012 Apr.
Artículo
Inglés
| MEDLINE | ID: mdl-22323337
14.
Cell chip-based monitoring of toxic effects of cosmetic compounds on skin fibroblast cells.
J Nanosci Nanotechnol
; 12(7): 5143-8, 2012 Jul.
Artículo
Inglés
| MEDLINE | ID: mdl-22966535
15.
Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis.
Med Hypotheses
; 146: 110432, 2021 Jan.
Artículo
Inglés
| MEDLINE | ID: mdl-33303308
16.
Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita.
Ann Pediatr Endocrinol Metab
; 26(2): 126-129, 2021 Jun.
Artículo
Inglés
| MEDLINE | ID: mdl-34218634
17.
Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin® in Patients with Type 1 Gaucher Disease.
J Korean Med Sci
; 30(9): 1373, 2015 Sep.
Artículo
Inglés
| MEDLINE | ID: mdl-26339182
18.
Generation of induced pluripotent stem cells (KSCBi009-A) from a patient with Prader-Willi syndrome (PWS) featuring deletion of the paternal chromosome region 15q11.2-q13.
Stem Cell Res
; 46: 101847, 2020 07.
Artículo
Inglés
| MEDLINE | ID: mdl-32474395
19.
MedRefSNP: a database of medically investigated SNPs.
Hum Mutat
; 30(3): E460-6, 2009 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-19105187
20.
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion.
Neuro Endocrinol Lett
; 39(8): 533-536, 2019 Mar.
Artículo
Inglés
| MEDLINE | ID: mdl-30927757