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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
臺大學術典藏 2022-03-10T03:55:01Z Impact of genetic tests on survivors of paediatric sudden cardiac arrest Chiu S.-N.; Juang J.-M.J.; Tseng W.-C.; Chen W.-P.; NI-CHUNG LEE; Wu M.-H.
臺大學術典藏 2022-03-10T03:55:01Z A novel deep intronic variant strongly associates with Alkaptonuria Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏 2022-03-10T03:55:01Z Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy Chen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE
臺大學術典藏 2022-03-10T03:55:00Z Comparison of GATK and DeepVariant by trio sequencing Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE
臺大學術典藏 2022-03-10T03:55:00Z Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency Tai C.-H.; NI-CHUNG LEE; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L.
臺大學術典藏 2022-02-14T23:55:57Z Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening NI-CHUNG LEE; Chang, Kai Ling; in 't Groen, Stijn L.M.; de Faria, Douglas O.S.; Huang, Hsiang Ju; Pijnappel, W. W.M.Pim; WUH-LIANG ​​HWU; YIN-HSIU CHIEN
臺大學術典藏 2022-02-14T23:55:57Z Comparison of GATK and DeepVariant by trio sequencing Lin, Yi Lin; Chang, Pi Chuan; Hsu, Ching; Hung, Miao Zi; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; FEI-PEI LAI; NI-CHUNG LEE
臺大學術典藏 2022-02-14T23:55:56Z Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; YI-CHING TUNG
臺大學術典藏 2022-01-15T00:08:14Z Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy Chen, Chih Ling; CHIEN-NAN LEE; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; Chang, Tung Ming; NI-CHUNG LEE
臺大學術典藏 2022-01-15T00:07:54Z Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation Su, Tzu Hsuan; NI-CHUNG LEE; Wu, Chao Szu; STEVEN SHINN-FORNG PENG; PI-CHUAN FAN

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