Detalhe da pesquisa
1.
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome.
Int J Med Sci
; 21(1): 8-18, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38164354
2.
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
Int J Med Sci
; 20(11): 1377-1385, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37790845
3.
The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature.
J Formos Med Assoc
; 121(3): 712-717, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-34420841
4.
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Int J Mol Sci
; 23(17)2022 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36077388
5.
Incidence and treatment of adult femoral fractures with osteogenesis imperfecta: An analysis of a center of 72 patients in Taiwan.
Int J Med Sci
; 18(5): 1240-1246, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33526985
6.
Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
Int J Med Sci
; 18(15): 3373-3379, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34522163
7.
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
Medicina (Kaunas)
; 58(1)2021 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35056323
8.
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Am J Med Genet A
; 182(2): 357-364, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31837205
9.
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.
J Pediatr
; 205: 176-182, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30409495
10.
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Int J Mol Sci
; 21(1)2019 Dec 23.
Artigo
Inglês
| MEDLINE | ID: mdl-31877959
11.
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
Am J Med Genet A
; 176(9): 1799-1809, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30070758
12.
Functional independence of Taiwanese children with Prader-Willi syndrome.
Am J Med Genet A
; 176(6): 1309-1314, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29696774
13.
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
Mol Genet Metab
; 117(4): 431-7, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26899310
14.
Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome.
Mol Genet Metab
; 119(1-2): 8-13, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27436784
15.
Functional independence of Taiwanese children with Down syndrome.
Dev Med Child Neurol
; 58(5): 502-7, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26331905
16.
PEDF-derived peptide promotes skeletal muscle regeneration through its mitogenic effect on muscle progenitor cells.
Am J Physiol Cell Physiol
; 309(3): C159-68, 2015 Aug 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26040897
17.
Indoxyl sulfate, not P-cresyl sulfate, is associated with advanced glycation end products in patients on long-term hemodialysis.
Kidney Blood Press Res
; 40(2): 121-9, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-25833743
18.
Cardiovascular abnormalities in Taiwanese patients with mucopolysaccharidosis.
Mol Genet Metab
; 111(4): 493-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24598247
19.
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.
Mol Genet Metab
; 111(4): 533-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24594444
20.
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
Front Genet
; 15: 1365729, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38818036