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Showing items 36-45 of 345  (35 Page(s) Totally)
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Institution Date Title Author
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
臺大學術典藏 2021-09-14T23:19:08Z Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; YIN-HSIU CHIEN; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C.; Lin, Hsiang Yu; Lin, Shuan Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella
臺大學術典藏 2021-07-15T05:31:28Z Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG ​​HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE
臺大學術典藏 2021-07-14T03:36:13Z The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu
臺大學術典藏 2021-06-10T07:29:35Z A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN; Huang, Pei-Hsin; Yang, Chih-Chao
臺大學術典藏 2021-06-10T07:27:58Z CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening Weng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN

Showing items 36-45 of 345  (35 Page(s) Totally)
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