公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2004 | Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis | Su Y.-N.; CHIEN-NAN LEE ; Chien S.-C.; Hung C.-C.; YIN-HSIU CHIEN ; CHI-AN CHEN | Journal of Human Genetics | 9 | 9 | |
2011 | Rapid progressive course of later-onset Pompe disease in Chinese patients | Yang C.-C.; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 39 | 38 | |
2021 | Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios | SHIN-YU LIN ; GWO-TSANN CHUANG ; Hung C.-H.; WEI-CHOU LIN ; YUNG-MING JENG ; TING-AN YEN ; Chang K.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; CHIEN-NAN LEE ; I-JUNG TSAI ; NI-CHUNG LEE | Frontiers in Genetics | 1 | 1 | |
2019 | Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia | Chee S.-Y.; Guo J.-W.; Huang C.-J.; YIN-HSIU CHIEN ; Lee Y.-C.; Feng W.-K. | Cytogenetic and Genome Research | 0 | 0 | |
2007 | Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease | Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU ; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN ; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E. | Neurology | 661 | 583 | |
2010 | Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU | Molecular Genetics and Metabolism | 2 | 2 | |
2013 | Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency | NI-CHUNG LEE ; Shieh Y.-D.; YIN-HSIU CHIEN ; KAI-YUAN TZEN ; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; WUH-LIANG HWU | Neurobiology of Disease | 33 | 30 | |
2002 | Rehospitalization of extremely-low-birth-weight
infants in first 2 years of life | Chien, Yin-Hsiu ; Tsao, Po-Nien ; Chou, Hung-Chieh ; Tang, Jen-Ruey; Tsou, Kuo-Inn | Early Human Development 66 (2002),33– 40 | | | |
2002 | Rehospitalization of extremely-low-birth-weight infants in first 2 years of life | YIN-HSIU CHIEN ; PO-NIEN TSAO ; HUNG-CHIEH CHOU ; Tang J.-R.; Tsou K.-I. | Early Human Development | 42 | 33 | |
2011 | A reliable password-based user authentication scheme for web-based human genome database system | Chen W.-H.; Wu Z.-Y.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | IEEE International Conference on Digital Ecosystems and Technologies | 0 | 0 | |
2020 | REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample | NI-CHUNG LEE ; WEI-CHUNG HSU ; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN ; CHI-LING CHEN ; WUH-LIANG HWU ; PEI-LIN LEE | Journal of the Formosan Medical Association | 14 | 14 | |
2019 | Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments | Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE ; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN ; WUH-LIANG HWU ; PI-CHUAN FAN ; Wong L.-J.; Atwal P.S.; Huang T. | Proceedings of the National Academy of Sciences of the United States of America | 9 | 7 | |
2018 | Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center | Lin C.-J.; YIN-HSIU CHIEN ; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU ; Wu C.-J. | Kidney and Blood Pressure Research | 22 | 19 | |
2009 | Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease | Chen L.-R.; CHUN-AN CHEN ; SHUENN-NAN CHIU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; MING-TAI LIN ; WUH-LIANG HWU ; JOU-KOU WANG ; MEI-HWAN WU | Journal of Pediatrics | 54 | 42 | |
2019 | A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | 13 | 9 | |
2017 | A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Neurology and Therapy | 17 | 0 | |
2007 | A review of treatment of pompe disease in infants | YIN-HSIU CHIEN ; WUH-LIANG HWU | Biologics: Targets and Therapy | 13 | | |
2021 | 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.; WUH-LIANG HWU ; NI-CHUNG LEE | Scientific Data | 3 | 3 | |
2017 | Russell–Silver syndrome presenting with ambiguous genitalia | Chang I.-F.; YIN-HSIU CHIEN ; Tsai W.-Y.; NI-CHUNG LEE | Journal of the Formosan Medical Association | 2 | 2 | |
2022 | Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report | Kishnani, Priya S; Kronn, David; Brassier, Anaïs; Broomfield, Alexander; Davison, James; Hahn, Si Houn; Kumada, Satoko; Labarthe, François; Ohki, Hirotaka; Pichard, Samia; Prakalapakorn, S Grace; Haack, Kristina An; Kittner, Barbara; Meng, Xianzhang; Sparks, Susan; Wilson, Catherine; Zaher, Atef; YIN-HSIU CHIEN | Genetics in medicine : official journal of the American College of Medical Genetics | 11 | 7 | |