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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 126-147 of 147  (6 Page(s) Totally)
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Institution Date Title Author
國立成功大學 2005-01 Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus Chou, Y. Y.; Chao, Sheau-Chiou; Shiue, C. N.; Tsai, W. H.; Lin, Shio-Jean
國立臺灣大學 2005 Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype 曾慶誠; 蔡立平; 胡務亮; 林秀娟; 趙美琴; 鐘育志; 朱紹盈; 呂謹立; TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI
國立成功大學 2004-10 Russell-Silver syndrome: Molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation, specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping Chou, Yen-Yin; Chen, Chien-Chang; Kuo, Pao-Lin; Tsai, Wen-Hui; Lin, Shio-Jean
國立成功大學 2004-03 Cytogenetic surveillance of mentally-retarded school children in southern Taiwan Shiue, Chiou-Nan; Lin, Ying-Hui; Kuan, Long-Ching; Lii, Li-Miin; Tsai, Wen-Hui; Chen, Yann-Jan; Lin, Shio-Jean; Kuo, Pao-Lin
國立成功大學 2003-12 Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese Huang, Yuan-Te; Chien, Yin-Hsiu; Yeh, Hui-Ying; Lin, Shio-Jean; Lu, Frank-Li; Chou, Shi-Ping; Lin, Jing-Meei; Chiang, Shu-Chuan; Hwu, Wuh-Liang
國立成功大學 2003-02 Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency Lee, Hsien-Hsiung; Chang, Shwu-Fen; Lee, Yann-Jinn; Raskin, Salmo; Lin, Shio-Jean; Chao, Mei-Chyn; Lo, Fu-Sung; Lin, Ching-Yu
高雄醫學大學 2003 Delection of the C4-CYP21 repeat module leading to the formation of a cause of steroid 21-hydroxylase deficiency.  趙美琴; Lee, Hsien-Hsiung;Chang, Shwu-Fen;Lee, Yann-Jinn;Raskin, Salmo;Lin, Shio-Jean;Chao, Mei-Chyn;Lo, Fu-Sung;Lin , and Ching-Yi
國立臺灣大學 2003 Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese 黃淵德; 簡穎秀; 葉慧英; 林秀娟; 呂立; 周西平; 林京美; 蔣書娟; 胡務亮; HUANG, YUAN-TE; CHIEN, YIN-HSIU; YEH, HUI-YING; LIN, SHIO-JEAN; LU, FRANK L; CHOU, SHI-PING; LIN, JING-MEEI; CHIANG, SHU-CHUAN; HWU, WUH-LIANG
國立成功大學 2002-11 Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure Teng, Yen-Ni; Lin, Yung-Ming; Lin, Ying-Hung; Tsao, Shu-Yi; Hsu, Chao-Chin; Lin, Shio-Jean; Tsai, Wan-Ching; Kuo, Pao-Lin
國立成功大學 2002-10 Knowledge and attitude towards ethical issues in human stem cell research: A survey among medical staffs in Taiwan. Lin, Shio-Jean; Chang, C; Kuo, Pao-Lin; Hu, S. C.; Huang, M. C.; Wang, Y. H.
國立成功大學 2002-10 Ethical issues in pre-symptomatic genetic testing: A survey of physicians' knowledge and attitudes in Taiwan. Tsai, Wen-Hui; Kuo, Pao-Lin; Shiue, C. N.; Chen, C. C.; Lin, Shio-Jean
國立成功大學 2002-07 Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction Teng, Yen-Ni; Tsai, Wen-Hui; Wu, Chyi-Jang; Lin, Shio-Jean; Chen, Yung-Jung; Kuo, Pao-Lin
國立成功大學 2002-04-24 Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease Lin, Shio-Jean; Huang, Ya-Fang; Chen, Jing-Yi; Heyworth, Paul G.; Noack, Deborah; Wang, Ji-Yao; Lin, Ching-Yuan; Chiang, Bor-Luen; Yang, Chin-Mu; Liu, Ching-Chuan; Shieh, Chi-Chang
國立成功大學 2001-10 Lack of age-associated LFA-1 up-regulation and impaired ICAM-1 binding in lymphocytes from patients with Down syndrome Lin, Shio-Jean; Wang, Ji-Yao; Klickstein, L. B.; Chuang, K. P.; Chen, J. Y.; Lee, J. F.; Shieh, Chi-Chang
國立成功大學 2001-03 An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome Tzeng, Ching-Cherng; Lin, Shio-Jean; Chen, Yung-Jung; Kuo, Pao-Lin; Jong, Yuh-Jyh; Tsai, Li-Ping; Chen, Robert
國立成功大學 2000-12 Y-chromosome microdeletion and its effect on reproductive decisions in Taiwanese patients presenting with nonobstructive azoospermia Lin, Yung-Ming; Chen, Chaio-Wei; Sun, Hsiao-Fang Sunny; Hsu, Chao-Chin; Chen, Jang-Ming; Lin, Shio-Jean; Lin, Johnny Shinn-Nan; Kuo, Pao-Lin
東海大學 2000-08 Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. 謝明麗; Hsieh, Mingli; Lin, Shio-Jean; Chen, Jai-Feng; Lin, Her-Maw; Hsiao, Kuang-Ming; Li, Shuan-Yow; Li, Chuan; Tsai, Chia-Jen
國立成功大學 2000-06 Implication of screening for FMR1 and FMR2 gene mutation in individuals with nonspecific mental retardation in Taiwan Tzeng, C. C.; Tzeng, P. Y.; Sun, H. S.; Chen, R. M.; Lin, Shio-Jean
國立成功大學 2000-06 An effective strategy of using a molecular test to screen individuals with mental retardation for fragile-X syndrome Tzeng, Ching-Cherng; Lin, Shio-Jean; Chen, Y. Y.; Chen, R. M.
國立成功大學 2000-04 Ras signaling is involved in the expression of Fas-L in glioma Yang, Bei-Chang; Wang, Yuh-Sheng; Liu, Hsiao-Sheng; Lin, Shio-Jean
國立臺灣大學 1987 Further Evidence for Genetic Heterogeneity of Whistling Face or Freeman- Sheldom Syndrome in a Chinese Family 王作仁; Lin, Shio-Jean; Wang, Tso-Ren; Lin, Shio-Jean
國立臺灣大學 1986 Human Sperm Chromosome Analysis in Primary Infertility:A Preliminary Report Lin, Shio-Jean; Wang, Tso-Ren; 莊壽洺; 連義隆; Yang, Yu-Shih; 楊友仕; Lin, Shio-Jean; Wang, Tso-Ren; 莊壽洺; 連義隆; Yang, Yu-Shih; Yang, Yu-Shih

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