臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	Repositories
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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-03-03T02:33:36Z	Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease	MING-JEN LEE; Nelson I.; Houlden H.; Sweeney M.G.; Hilton-Jones D.; Blake J.; Wood N.W.; Reilly M.M.
臺大學術典藏	2020-03-03T02:33:36Z	The spinocerebellar ataxias-genotype-phenotype correlation	Wood N.W.; MING-JEN LEE
臺大學術典藏	2020-03-03T02:33:35Z	Characterization of a familial case with primary erythromelalgia from Taiwan	MING-JEN LEE; Yu H.-S.; Hsieh S.-T.; Stephenson D.A.; Lu C.-J.; Yang C.-C.
臺大學術典藏	2020-03-03T02:33:35Z	Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke	Tang S.-C.; MING-JEN LEE; Jeng J.-S.; Yip P.-K.
臺大學術典藏	2020-03-03T02:33:35Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L.
臺大學術典藏	2020-03-03T02:33:35Z	Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response	Hung C.-C.; Tai J.J.; Lin C.-J.; MING-JEN LEE; Liou H.-H.
臺大學術典藏	2020-03-03T02:33:35Z	Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C	Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE
臺大學術典藏	2020-03-03T02:33:35Z	Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	Tang S.-C.; MING-JEN LEE; Jeng J.-S.; Yip P.-K.
臺大學術典藏	2020-03-03T02:33:34Z	Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum	MING-JEN LEE; Cheng T.-W.; Hua M.-S.; Pan M.-K.; Wang J.; Stephenson D.A.; Yang C.-C.
臺大學術典藏	2020-03-03T02:33:34Z	Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese	Chen S.-R.; Lin K.-P.; Kuo H.-C.; Chen C.-M.; Hsieh S.-T.; MING-JEN LEE; Yang C.-C.; Liu C.-S.; Huang C.-C.; Lyu R.-K.; Ro L.-S.

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