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机构 日期 题名 作者
臺大學術典藏 2022-02-18T08:09:25Z 大規模人口遺傳疾病篩檢之倫理議題與國家政策 Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien; WUH-LIANG HWU
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 2022-02-14T23:55:56Z Advanced therapeutic strategy for hereditary neuromuscular diseases WUH-LIANG ​​HWU; Muramatsu, Shin Ichi; YIN-HSIU CHIEN; Byrne, Barry J.
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 2021-12-14T23:12:29Z CTLA-4 gene mutation and multiple sclerosis: A case report and literature review Lin, Ting Wei; Hu, Ya Chiao; YAO-HSU YANG; YIN-HSIU CHIEN; NI-CHUNG LEE; HSIN-HUI YU; BOR-LUEN CHIANG; LI-CHIEH WANG
臺大學術典藏 2021-12-14T23:12:28Z Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial Diaz-Manera, Jordi; Kishnani, Priya S.; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T.; Berger, Kenneth I.; Clemens, Paula R.; YIN-HSIU CHIEN; Day, John W.; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt; Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D.; Hennermann, Julia B.; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B.; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne Catherine; Avelar, Jennifer B.; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E.; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean Baptiste; DeArmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka
臺大學術典藏 2021-12-14T23:12:27Z Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency CHUN-HWEI TAI; NI-CHUNG LEE; YIN-HSIU CHIEN; Byrne, Barry J.; Muramatsu, Shin Ichi; SHENG-HONG TSENG; WUH-LIANG ​​HWU
臺大學術典藏 2021-11-17T03:27:51Z DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA

显示项目 31-40 / 345 (共35页)
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