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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Showing items 26-35 of 770 (77 Page(s) Totally)
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Institution	Date	Title	Author
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	2022-03-10T02:31:40Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; PO-HAN LIN; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J.
臺大學術典藏	2022-03-04T03:48:03Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; WEI-CHOU LIN; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-14T07:10:50Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-01-25T03:25:02Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L.
臺大學術典藏	2021-12-16T06:28:32Z	MRI in a case of adult-onset citrullinemia	YA-FANG CHEN; Huang, Y C; Liu, H M; Hwu, W L
臺大學術典藏	2021-11-26T05:56:53Z	Adenoviral interneuronal transportation after retrograde gene transfer in mice	LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H.
臺大學術典藏	2021-11-26T05:56:53Z	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H.

Showing items 26-35 of 770 (77 Page(s) Totally)
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