| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
|
YIN-HSIU CHIEN; Lee N.-C.; Weng W.-C.; Chen L.-C.; Huang Y.-H.; Wu C.-S.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
Lee N.-C.; YIN-HSIU CHIEN; Wang C.-H.; Wong S.-L.; Peng S.S.-F.; Tsai F.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:08Z |
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity
|
Chan K.-W.; Wong C.-Y.; Leung D.; Yang X.; Fok S.F.S.; Mak P.H.S.; Yao L.; Ma W.; Mao H.; Zhao X.; Liang W.; Singh S.; Barbouche M.-R.; He J.-X.; Jiang L.-P.; Liew W.-K.; Le M.H.T.; Muktiarti D.; Santos-Ocampo F.J.; Djidjik R.; Belaid B.; Ismail I.H.; Abdul Latiff A.H.; Lee W.S.; Chen T.-X.; Liu J.; Jin R.; Wang X.; YIN-HSIU CHIEN; Yu H.-H.; Raj D.; Raj R.; Vaughan J.; Urban M.; Berg S.V.D.; Eley B.; Lee A.C.-W.; Isa M.S.; Ang E.Y.; Lee B.W.; Yeoh A.E.J.; Shek L.P.; Quynh Le N.N.; Nguyen V.A.T.; Phan Nguyen Lien A.; Capulong R.D.; Mallillin J.M.; Villanueva J.C.M.M.; Camonayan K.A.B.; Vera M.D.; Casis-Hao R.J.; Lobo R.C.M.; Foronda R.; Binas V.W.E.; Boushaki S.; Kechout N.; Phongsamart G.; Wongwaree S.; Jiratchaya C.; Lao-Araya M.; Trakultivakorn M.; Suratannon N.; Jirapongsananuruk O.; Chantveerawong T.; Kamchaisatian W.; Chan L.L.; Koh M.T.; Wong K.J.; Fong S.M.; Thong M.-K.; Latiff Z.A.; Noh L.M.; Silva R.D.; Jouhadi Z.; Al-Saad K.; Vignesh P.; Jindal A.K.; Rawat A.; Gupta A.; Suri D.; Yang J.; Au E.Y.-L.; Kwok J.S.-Y.; Chan S.-Y.; Hui W.Y.-F.; Chua G.T.; Duque J.R.; Cheong K.-N.; Chong P.C.Y.; Ho M.H.K.; Lee T.-L.; Wong W.H.-S.; Yang W.; Lee P.P.; Tu W.; Yang X.-Q.; Lau Y.L. |
| 臺大學術典藏 |
2022-09-06T02:56:08Z |
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency
|
Yverneau M.; Leroux S.; Imbard A.; Gleich F.; Arion A.; Moreau C.; Nassogne M.-C.; Szymanowski M.; Tardieu M.; Touati G.; Bueno M.; Chapman K.A.; YIN-HSIU CHIEN; Huemer M.; Je?ina P.; Janssen M.C.H.; K?lker S.; Ko?ich V.; Lavigne C.; Lund A.M.; Mochel F.; Morris A.; Pons M.R.; Porras-Hurtado G.L.; Benoist J.-F.; Damaj L.; Schiff M.; Martins A.M.; Alonso J.B.; Chabrol B.; Crushell E.; Dionisi-Vici C.; Gr?newald S.; Mention K.; Mundy H.; Murphy E.; Fraile P.Q.; Ruiz C.J.; Ruiz G?mez M.?.; Santra S.; Scherer T.; Stainforth C.; Stepien K.M.; Sunder-Plassmann G.; Van Hove J.L.K.; E-HOD Consortium |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
|
Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
|
Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:06Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.P.; Lee N.-C. |
| 臺大學術典藏 |
2022-05-17T06:03:52Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:54Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
NI-CHUNG LEE; YIN-HSIU CHIEN; Wang, Chung Hsing; Wong, Siew Lee; STEVEN SHINN-FORNG PENG; Tsai, Fuu Jen; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-05-14T23:35:27Z |
Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome
|
Lin, Han Yi; WEN-YU TSAI; YI-CHING TUNG; SHIH-YAO LIU; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; CHENG-TING LEE |
| 臺大學術典藏 |
2022-03-28T02:46:04Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Chen C.-A.; Tang N.L.S.; YIN-HSIU CHIEN; Zhang W.-M.; Wang J.-K.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:03Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:02Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; Yang Y.-H.; YIN-HSIU CHIEN; Lee N.-C.; Yu H.-H.; Chiang B.-L.; Wang L.-C. |
| 臺大學術典藏 |
2022-03-28T02:46:02Z |
DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms
|
Yang T.-W.; Li Y.-H.; Chou C.-F.; Lai F.-P.; YIN-HSIU CHIEN; Yin H.-I.; Lee T.-T.; Hwa H.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:01Z |
Cystathionine ?-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
|
Ko?ich V.; Sokolov? J.; Morris A.A.M.; Pavl?kov? M.; Gleich F.; K?lker S.; Krijt J.; Dionisi-Vici C.; Baumgartner M.R.; Blom H.J.; Huemer M.; Ald?miz-Echevarr?a L.; Arantes R.R.; Arrieta F.; Blasco-Alonso J.; Brouwers M.; Brunner-Krainz M.; Bueno M.; Pel?ez R.B.; Cano A.; Couce M.-L.; Crushell E.; Ficicioglu C.; Forny P.; Garc?a Jim?nez M.C.; Gaspar A.; Gonz?lez-Lamu?o Leguina D.; Chapman K.A.; YIN-HSIU CHIEN; Janssen M.C.H.; Je?ina P.; Lachmann R.; Lavigne C.; Lund A.M.; L?sebrink N.; Maillot F.; Martins A.M.; Olivas S.M.; Mention K.; Mochel F.; Monavari A.; Moreira S.; Moreno C.A.; Muacevic-Katanec D.; Mundy H.; Murphy E.; Olivieri G.; Paquay S.; Pedr?n-Giner C.; Quintana L.P.; Porras-Hurtado G.L.; Fraile P.Q.; Redonnet-Vernhet I.; Rennings A.J.M.; Pons M.R.; Santra S.; Servais A.; Schiaffino M.C.; Schiff M.; Schwahn B.C.; Schwartz I.V.D.; Sremba L.J.; Stainforth C.; Stepien K.M.; Sykut-Cegielska J.; Terry A.; Tran C.; Mi?ana I.V.; Vives-Pi?era I.; Williams M.; Zeman J.; Zielonka M.; E-HOD consortium |
| 臺大學術典藏 |
2022-03-28T02:46:00Z |
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
|
Gutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; Hwu P.W.-L.; Toscano A.; Schoser B. |
| 臺大學術典藏 |
2022-03-28T02:46:00Z |
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.; Jeng Y.-M.; Yen T.-A.; Chang K.; YIN-HSIU CHIEN; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:59Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
|
Zanetti A.; D'Avanzo F.; AlSayed M.; Brusius-Facchin A.C.; YIN-HSIU CHIEN; Giugliani R.; Izzo E.; Kasper D.C.; Lin H.-Y.; Lin S.-P.; Pollard L.; Singh A.; Tonin R.; Wood T.; Morrone A.; Tomanin R. |
| 臺大學術典藏 |
2022-03-28T02:45:59Z |
Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions
|
Chan S.H.-S.; Chae J.-H.; YIN-HSIU CHIEN; Ko T.-S.; Lee J.H.; Lee Y.J.; Nam S.O.; Jong Y.-J. |
| 臺大學術典藏 |
2022-03-28T02:45:58Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
|
Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN; Wang Y.-T.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:58Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
|
Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; Lee N.-C.; Lin C.-Y.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:56Z |
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
|
Schoser B.; Roberts M.; Byrne B.J.; Sitaraman S.; Jiang H.; Lafor?t P.; Toscano A.; Castelli J.; D?az-Manera J.; Goldman M.; van der Ploeg A.T.; Bratkovic D.; Kuchipudi S.; Mozaffar T.; Kishnani P.S.; Sebok A.; Pestronk A.; Dominovic-Kovacevic A.; Khan A.; Koritnik B.; Tard C.; Lindberg C.; Quinn C.; Eldridge C.; Bodkin C.; Reyes-Leiva D.; Hughes D.; Stefanescu E.; SALORT-CAMPANA E.; Butler E.; Bouhour F.; Kim G.; Konstantinos Papadimas G.; Parenti G.; Bartosik-Psujek H.; Kushlaf H.; Akihiro H.; Lau H.; Pedro H.; Andersen H.; Amartino H.; Shiraishi H.; Kobayashi H.; Tarnev I.; Vengoechea J.; Avelar J.; Shin J.-H.; Cauci J.; Alonso-P?rez J.; Janszky J.; Berthy J.; Cornelia K.; Gutschmidt K.; Claeys K.; Judit Molnar M.; Wencel M.; Tarnopolsky M.; Dimachkie M.; Tchan M.; Freimer M.; Longo N.; Vidal-Fernandez N.; Musumeci O.; Goker-Alpan O.; Deegan P.; Clemens P.R.; Roxburgh R.; Henderson R.; Hopkin R.; Sacconi S.; Fecarotta S.; Attarian S.; Wenninger S.; Dearmey S.; Hiwot T.; Burrow T.; Ruck T.; Sawada T.; Laszlo V.; L?scher W.; YIN-HSIU CHIEN; PROPEL Study Group |
| 臺大學術典藏 |
2022-03-28T02:45:55Z |
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 J.; Kishnani P.S.; Kushlaf H.; Ladha S.; Mozaffar T.; Straub V.; Toscano A.; van der Ploeg A.T.; Berger K.I.; Clemens P.R.; YIN-HSIU CHIEN; Day J.W.; Illarioshkin S.; Roberts M.; Attarian S.; Borges J.L.; Bouhour F.; Choi Y.C.; Erdem-Ozdamar S.; Goker-Alpan O.; Kostera-Pruszczyk A.; Haack K.A.; Hug C.; Huynh-Ba O.; Johnson J.; Thibault N.; Zhou T.; Dimachkie M.M.; Schoser B.; Behin A.; Boentert M.; Carvalho G.; Chahin N.; Charrow J.; Deegan P.; Durmus Tekce H.; Duval F.; Genge A.; Gutmann L.; Henderson R.D.; Hennermann J.B.; Hiwot T.; Hughes D.; Karaa A.; Karam C.; Kautzky-Willer A.; Komaki H.; Laforet P.; Longo N.; Malinova V.; Mar? R.; Maxit C.; Mengel E.; Moggio M.G.; Moln?r M.J.; Mongini T.E.; Nadaj-Pakleza A.; Nascimento Osorio A.; Noury J.-B.; Oliveira A.S.B.; Parman Y.; Pena L.; Remiche G.; Sciacco M.; Shieh P.B.; Smith C.; Stulnig T.; Taithe F.; Tard C.; Tarnopolsky M.; Vorgerd M.; Whitley C.; Young P.; Alonso-P?rez J.; Altemus P.; Aub?-Nathier A.-C.; Avelar J.B.; Bailey C.; Bekircan-Kurt C.E.; Billy J.; Boschi S.; Brown K.E.; Carrera Garcia L.; Chase L.; Cirne H.; Danjoux L.; Davion J.-B.; DeArmey S.; Fedotova E.; Gandolfo E.; Grosz Z.; Guellec D.; Guettsches A.-K.; Guglieri M.; Hatcher E.; Helms S.; Hufgard-Leitner M.; Klyushnikov S.A.; Langton J.; Linkov? L.; Mavroudakis N.; Mazurov? S.; Mori M.; M?ller-Miny L.; Musumeci O.; Nance C.S.; Natera-de Benito D.; Neel R.; Niizawa G.A.; Noll L.; Ortega E.; Pasnoor M.; Pautot V.; Potulska-Chromik A.; Pugliese A.; Questienne C.; Ramos Lopes M.; Reyes-Leiva D.; Riedl M.; Rugiero M.F.; Salort-Campana E.; Sgobbi Souza P.V.; Sole G.; Solera L.; Souto Lopes S.; Specht S.; Statland J.; Swenson A.; Tan C.Y.; Tizon S.; van der Beek N.A.M.E.; van Kooten H.A.; Wencel M.; Wenninger S.; Zagnoli F.; COMET Investigator Group |
| 臺大學術典藏 |
2022-03-28T02:45:54Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; YIN-HSIU CHIEN; Hwu W.-L.; Chang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:52Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
|
Tang Y.-C.; Tsui P.-H.; Wang C.-Y.; Weng H.-L.; YIN-HSIU CHIEN; Yang C.-Y.; Weng W.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:46Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-14T23:45:35Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
|
Tang, Ya Chun; Tsui, Po Hsiang; Wang, Chiao Yin; Weng, Hui Ling; YIN-HSIU CHIEN; Yang, Chung Yi; WEN-CHIN WENG |
| 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 |
| 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 |
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2020-12-24T06:17:25Z |
Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host disease
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YIN-HSIU CHIEN; Lin K.-H.; Lee T.-Y.; Lu M.-Y.; Tsau Y.-K. |
