Found: 17
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Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 817, doi. 10.3390/jpm12050817
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- Article
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome.
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- Drug Design, Development & Therapy, 2022, v. 16, p. 143, doi. 10.2147/DDDT.S219433
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- Article
Increased Diagnostic Yield of Array Comparative Genomic Hybridization for Autism Spectrum Disorder in One Institution in Taiwan.
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- Medicina (1010660X), 2022, v. 58, n. 1, p. 15, doi. 10.3390/medicina58010015
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- Article
Otorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
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- International Journal of Medical Sciences, 2021, v. 18, n. 15, p. 3373, doi. 10.7150/ijms.61827
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- Article
Wiedemann–Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
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- Children, 2021, v. 8, n. 11, p. 1, doi. 10.3390/children8110952
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- Article
Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Beckwith-Wiedemann Syndrome.
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- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1066, doi. 10.3390/jpm11111066
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- Article
Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver–Russell Syndrome.
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- Journal of Personalized Medicine, 2021, v. 11, n. 11, p. 1197, doi. 10.3390/jpm11111197
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- Publication type:
- Article
Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.
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- Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1583, doi. 10.3390/diagnostics11091583
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- Article
Effect of Mutated ids Overexpression on IDS Enzyme Activity and Developmental Phenotypes in Zebrafish Embryos: A Valuable Index for Assessing Critical Point-Mutations Associated with Mucopolysaccharidosis Type II Occurrence in Humans.
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- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 854, doi. 10.3390/diagnostics10100854
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- Article
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 114, doi. 10.3390/ijms21010114
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- Article
An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan.
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- Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 140, doi. 10.3390/diagnostics9040140
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- Article
Functional independence of Taiwanese patients with mucopolysaccharidoses.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.790
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- Article
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351
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- Article
Functional independence of Taiwanese children with Prader–Willi syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1309, doi. 10.1002/ajmg.a.38705
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- Publication type:
- Article
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
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- 2018
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- Publication type:
- journal article
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012.
- Published in:
- 2016
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- Publication type:
- journal article
Functional independence of Taiwanese children with Down syndrome.
- Published in:
- 2016
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- Publication type:
- journal article