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Institution Date Title Author
國立臺灣大學 2006 Novel Mutation of Neurofibromatosis Type 1 in a Patient with Cerebral Vasculopathy and Fatal Ischemic Stroke 湯頌君; 李銘仁; 鄭建興; 葉炳強; TANG, SUNG-CHUN; LEE, MING-JEN; JENG, JIANN-SHING; YIP, PING-KEUNG
臺大學術典藏 2020-03-04T05:43:05Z Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke SUNG-CHUN TANG; Lee M.-J; Jeng J.-S; Yip P.-K.
臺大學術典藏 2006 Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke Yip P.-K.; Jeng J.-S.; MING-JEN LEE; Tang S.-C.
臺大學術典藏 2006 Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke JIANN-SHING JENG; Yip P.-K.; Lee M.-J.; Tang S.-C.; Tang S.-C.;Lee M.-J.;Jiann-Shing Jeng;Yip P.-K.
臺大學術典藏 2021-12-22T03:54:38Z Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke Tang S.-C.; Lee M.-J.; JIANN-SHING JENG; Yip P.-K.
國家衛生研究院 2002-07-01 Novel mutation of topoisomerase I in rendering cells resistant to camptothecin Chang, JY; Liu, JF; Juang, SH; Liu, TW; Chen, LT
中國醫藥大學 2002-07 Novel Mutation of Topoisomerase I in Rendering Cells Resistant to Camptothecin (Chang, J.-Y.*)*; (Liu, J.-F.); 莊聲宏(Shin-Hun Juang); (Liu T.-W.); (Chen, L.-T)
國立臺灣大學 1992 Novel Mutational Spectrum Induced by Nmethyl-NI-nitro-N-nitrosoguanidine in the Coding Region of the Hyposanthine (Guanine) Phosphoribosyltransferase Gene in Diploid Human Fibroblasts Yang, J. L.; 吳成文; Yang, J. L.; Wu, Cheng-Wen
中山醫學大學 2006 Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita Kuo, H-C;Hsiao, K-M;Chang, L-I;You, T-H;Yeh, T-H;Huang, C-C
臺大學術典藏 2021-11-30T04:53:13Z Novel mutations detection with next-generation sequencing and its association with clinical outcome in unilateral primary aldosteronism Wu C.-H.; Peng K.-Y.; Hwang D.-Y.; Lin Y.-H.; VIN-CENT WU; Chueh J.S.
臺大學術典藏 2022-01-03T05:49:19Z Novel mutations detection with next-generation sequencing and its association with clinical outcome in unilateral primary aldosteronism Wu C.-H.; Peng K.-Y.; Hwang D.-Y.; Lin Y.-H.; Wu V.-C.; SHIH-CHIEH CHUEH
臺大學術典藏 2021-10-21T23:27:13Z Novel mutations detection with next-generation sequencing and its association with clinical outcome in unilateral primary aldosteronism Wu, Che Hsiung; Peng, Kang Yung; Hwang, Daw Yang; YEN-HUNG LIN; VIN-CENT WU; Chueh, Jeff S.
國立臺灣師範大學 2014-10-27T15:01:12Z Novel Mutations in c-Cb1 Ubiquitin Ligase Gene in Taiwanese Lung Cancer 譚一泓; Salgia, Ravi; 謝秀梅; 王憶卿
中山醫學大學 2010 Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss Hui-Mei Hong; Jiann-Jou Yang; Jia-Ching Shieh; Mei-Ling Li; Shuan-Yow Li
國立臺灣大學 2001 Novel Mutations in the Factor Vii Gene of Taiwanese Factor Vii-Deficient Patients 林正修; 林淑華; 楊偉勛; 沈銘鏡; LIN, JEN-SHIOU; LIN, SHU-WHA; YANG, WEI-SHIUNG; SHEN, MING-CHING
國立臺灣大學 2001-03 Novel mutations in the Factor VII gene of Taiwanese Factor VII-deficient patients Shen, MC; Lin, JS; Lin, SW; Yang, WS; Lin, B.
臺大學術典藏 2020-06-22T07:37:18Z Novel mutations in the factor VII gene of Taiwanese factor VII-deficient patients Shen M.-C.;Lin J.-S.;Shu-Wha Lin;Yang W.-S.;Lin B.; Shen M.-C.; Lin J.-S.; SHU-WHA LIN; Yang W.-S.; Lin B.
臺大學術典藏 2021-05-25T06:36:03Z Novel mutations in the factor VII gene of Taiwanese factor VII-deficient patients MING-CHING SHEN; Lin J.-S.; Lin S.-W.; Yang W.-S.; Lin B.
國立成功大學 2005-11 Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy Chen, Ying-Ting; Chao, Sheau-Chiou; Tseng, Sung-Huei
臺大學術典藏 2020-12-16T02:25:09Z Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes Abdenur J.E.; Benke P.J.; Taft R.J.; WUH-LIANG HWU; Simon M.T.;Eftekharian S.S.;Stover A.E.;Osborne A.F.;Braffman B.H.;Chang R.C.;Wang R.Y.;Steenari M.R.;Tang S.;Wuh-Liang Hwu;Taft R.J.;Benke P.J.;Abdenur J.E.; Simon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S.
中山醫學大學 2020 Novel Mutations in the TMPRSS3 Gene May Contribute to Taiwanese Patients with Nonsyndromic Hearing Loss Wong, SH; Yen, YC; Li, SY; Yang, JJ
國家衛生研究院 2003-10 Novel mutations involving the NF1 gene coding sequence in neurofibromatosis type 1 patients from Taiwan Liu, MT; Su, JS; Huang, CY; Tsai, SF
國立成功大學 2001-03 Novel mutations of CYP3A4 in Chinese Hsieh, Kun-Pin; Lin, Yen-Yu; Cheng, Ching-Ling; Lai, Ming-Liang; Lin, Min-Shung; Siest, Jean-Pascal; Huang, Jin-Ding
東海大學 2001 Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome. Sham M.H., Lui V.C., Chen B.L., Fu M., Tam P.K.
國家衛生研究院 2017-09 Novel mutations of the tetratricopeptide repeat domain 7A gene and phenotype/genotype comparison Lien, R;Lin, YF;Lai, MW;Weng, HY;Wu, RC;Jaing, TH;Huang, JL;Tsai, SF;Lee, WI

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