TPIDB > 臨床試驗主持人
臨床試驗主持人
更新時間：2023-09-19
簡穎秀Chien, Yin-Hsiu
- 計畫主持人
- 執行臨床試驗年資 17 年 9 個月
發表文獻
42筆
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Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. Am J Med Genet A. 2020 Feb;182(2):357-364. doi: 10.1002/ajmg.a.61429. Epub 2019 Dec 14. PMID: 31837205.
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Chiu HH, Chien YH. Turner syndrome and cardiovascular anomalies: Care for girls and women. Pediatr Neonatol. 2020 Apr;61(2):129-130. doi: 10.1016/j.pedneo.2020.03.008. PMID: 32273077.
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Chen SJ, Lee BC, Lee NC, Chien YH, Hwu WL, Lin CH. Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort. Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):352-359. doi: 10.1002/ajmg.b.32810. Epub 2020 Jul 9. PMID: 32643304.
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Fang WQ, Hwu WL, Chien YH, Yang SY, Chieh JJ, Chang LM, Huang AC, Lee NC, Chiu MJ. Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in Down Syndrome. ACS Chem Neurosci. 2020 Jan 15;11(2):191-196. doi: 10.1021/acschemneuro.9b00585. Epub 2019 Dec 23. PMID: 31799825.
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Chien YH, Lee NC, Chen PW, Yeh HY, Gelb MH, Chiu PC, Chu SY, Lee CH, Lee AR, Hwu WL. Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns. Orphanet J Rare Dis. 2020 Feb 3;15(1):38. doi: 10.1186/s13023-020-1322-z. PMID: 32014045; PMCID: PMC6998831.
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Hsu RH, Chien YH, Hwu WL, Lee NC. Diversity in heritable disorders of connective tissue at a single center. Connect Tissue Res. 2021 Sep;62(5):580-585. doi: 10.1080/03008207.2020.1816994. Epub 2020 Sep 8. PMID: 32862725.
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Weng HL, Yang FJ, Chen PR, Hwu WL, Lee NC, Chien YH. Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Sci Rep. 2020 Sep 3;10(1):14537. doi: 10.1038/s41598-020-71361-8. PMID: 32883979; PMCID: PMC7471922.
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Kuo CW, Hwu WL, Chien YH, Hsu C, Hung MZ, Lin IL, Lai F, Lee NC. Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes. Mol Genet Genomic Med. 2020 Oct;8(10):e1455. doi: 10.1002/mgg3.1455. Epub 2020 Aug 14. PMID: 32794656; PMCID: PMC7549563.
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Chien YH, Tsai WH, Chang CL, Chiu PC, Chou YY, Tsai FJ, Wong SL, Lee NC, Hwu WL. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences. Mol Genet Metab Rep. 2020 Apr 29;23:100591. doi: 10.1016/j.ymgmr.2020.100591. PMID: 32373469; PMCID: PMC7193123.
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Liu MY, Lee CT, Lee NC, Tung YC, Chien YH, Hwu WL, Tsai WY. Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center. J Formos Med Assoc. 2020 Jan;119(1 Pt 2):345-349. doi: 10.1016/j.jfma.2019.06.003. Epub 2019 Jun 27. PMID: 31255418.
