Found: 19
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Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.
- Published in:
- Diagnostics (2075-4418), 2024, v. 14, n. 16, p. 1815, doi. 10.3390/diagnostics14161815
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- Publication type:
- Article
Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.
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- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1365729
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- Publication type:
- Article
Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
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- Diagnostics (2075-4418), 2024, v. 14, n. 8, p. 846, doi. 10.3390/diagnostics14080846
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- Publication type:
- Article
22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients.
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- International Journal of Medical Sciences, 2023, v. 20, n. 11, p. 1377, doi. 10.7150/ijms.86773
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- Publication type:
- Article
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9979, doi. 10.3390/ijms23179979
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- Publication type:
- Article
Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.
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- Journal of Personalized Medicine, 2022, v. 12, n. 8, p. 1338, doi. 10.3390/jpm12081338
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- Publication type:
- Article
Newborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
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- Journal of Personalized Medicine, 2022, v. 12, n. 7, p. 1023, doi. 10.3390/jpm12071023
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- Publication type:
- Article
Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan.
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- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 817, doi. 10.3390/jpm12050817
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- 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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- 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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- Publication type:
- Article
The effects of the Otago Exercise Programme on actual and perceived balance in older adults: A meta-analysis.
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- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0255780
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 982, doi. 10.1002/mgg3.471
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- Publication type:
- 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
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
- Published in:
- 2018
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- Publication type:
- journal article