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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Institution Date Title Author
中山醫學大學 2021 Epigenotype, Genotype, and Phenotype Analysis of Taiwanese Patients with Silver-Russell Syndrome Lin, HY; Lee, CL; Fran, S; Tu, RY; Chang, YH; Niu, DM; Chang, CY; Chiu, PC; Chou, YY; Hsiao, HP; Tsai, MC; Chao, MC; Tsai, LP; Yang, CF; Su, PH; Pan, YW; Lee, CH; Chu, TH; Chuang, CK; Lin, SP
國家衛生研究院 2020-12 Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay Lin, YF;Lin, TC;Kirby, R;Weng, HY;Liu, YM;Niu, DM;Tsai, SF;Yang, CF
國家衛生研究院 2014-04 High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry Lee, SH;Li, CF;Lin, HY;Lin, CH;Liu, HC;Tsai, SF;Niu, DM
國家衛生研究院 2011-01 Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome Liao, HM;Niu, DM;Chen, YJ;Fang, JS;Chen, SJ;Chen, CH
國立臺灣大學 2005-02 R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese Hwang HW; Niu DM; Hwang BT; Chen JJ; Lin YJ; Shieh RC; Lee MT; Hung SI; Wu JY; Chen YT.
中國醫藥大學 2005 Contribution of Genetic Factors in Neonatal Transient Hypothroidism (Niu DM); 林清淵*; (Hwang B); (Jap TS); (Liao CJ); (Wu JY)
中國醫藥大學 2005 Contribution of genetic factors to neonatal transient hypothyroidism Niu, DM; Lin, CY; Hwang, B; Jap, TS; Liao, CJ; Wu, JY
中國醫藥大學 2004 Contribution of genetic factors in neonatal transient hypothyroidism (NTH) Chen, YJ; Niu, DM; Lee, NC; Lin, CY; Hwang, B; Liao, CJ; Yeh, TF
中國醫藥大學 2004 Congenital insensivity to pain with anhidrosis - First report in Chinese population Huang, CH; Niu, DM; Hwang, B; Yeh, TF
中國醫藥大學 2004 Contributions of bone maturation measurements to the differential diagnosis between neonatal transient hypothyroidism and dyshormonogenetic congenital hypothyroidism Niu, DM; Hwang, B; Tiu, CM; Lin, CY; Yeh, TF
中國醫藥大學 2002 High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect (Niu DM); (Hwang B); (Chu YK); (Liao CJ); (Wang PL); 林清淵
中國醫藥大學 2002 Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite (Niu DM); (Pan CC); 林清淵; (Hwang B); (Chung MY)

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