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.
Phenotype, genotype, and clinical outcome of Taiwanese with congenital nephrotic syndrome.
J Formos Med Assoc
; 2023 Oct 14.
Artigo
Inglês
| MEDLINE | ID: mdl-37845138
4.
Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mol Genet Metab
; 137(1-2): 164-172, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36087504
5.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35709957
6.
Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.
Int J Med Sci
; 19(1): 126-131, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34975306
7.
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
8.
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
9.
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Hum Mutat
; 42(11): 1384-1398, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34387910
10.
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.
Am J Hum Genet
; 102(2): 219-232, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29336782
11.
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
12.
Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
Int J Med Sci
; 18(15): 3373-3379, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34522163
13.
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
14.
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
15.
Training in clinical genetics and genetic counseling in Asia.
Am J Med Genet C Semin Med Genet
; 181(2): 177-186, 2019 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31037827
16.
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
17.
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses.
Pediatr Crit Care Med
; 20(11): 1021-1026, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31261230
18.
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
19.
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
20.
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