公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia | NI-CHUNG LEE ; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN ; Tsai W.-Y.; WUH-LIANG HWU | American Journal of Medical Genetics, Part A | 18 | 16 | |
2004 | Carbohydrate deficient glycoprotein syndrome type IA | Chu K.-L.; YIN-HSIU CHIEN ; Tsai C.-E.; Freeze H.H.; Eklund E.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 3 | 2 | |
2020 | Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan | Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; Chuang C.-K.; MEI-HWAN WU ; JOU-KOU WANG ; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. | American Journal of Medical Genetics, Part A | 7 | 7 | |
2013 | Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation | Chen Y.-C.; YIN-HSIU CHIEN ; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; WUH-LIANG HWU ; NI-CHUNG LEE | Human Mutation | 13 | 12 | |
2016 | Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 22 | 24 | |
2010 | CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency | Chang K.-L.; WUH-LIANG HWU ; Yeh H.-Y.; NI-CHUNG LEE ; YIN-HSIU CHIEN | Blood Cells, Molecules, and Diseases | 17 | 15 | |
2011 | Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease | STEVEN SHINN-FORNG PENG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; HON-MAN LIU ; WEN-YIH TSENG | Biomedical Engineering - Applications, Basis and Communications | 1 | 1 | |
2008 | Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan | YIN-HSIU CHIEN ; NI-CHUNG LEE ; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU | Southeast Asian Journal of Tropical Medicine and Public Health | 8 | 0 | |
2023 | Changing clinical manifestations of Gaucher disease in Taiwan | Lu, Wen-Li; YIN-HSIU CHIEN ; Tsai, Fuu-Jen; WUH-LIANG HWU ; Chou, Yen-Yin; Chu, Shao-Yin; MENG-JU LI ; Lee, An-Ju; Liao, Chao-Chuan; Wang, Chung-Hsing; NI-CHUNG LEE | Orphanet journal of rare diseases | 0 | 0 | |
2008 | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | Chen H.-W.; HUEY-LING CHEN ; YEN-HSUAN NI ; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang Y.-T.; Chiu P.-C.; MEI-HWEI CHANG | Journal of Pediatric Gastroenterology and Nutrition | 21 | 10 | |
2022 | Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome | HSIN-HUI YU ; YIN-HSIU CHIEN ; MENG-YAO LU ; YA-CHIAO HU ; JYH-HONG LEE ; LI-CHIEH WANG ; YU-TSAN LIN ; YAO-HSU YANG ; BOR-LUEN CHIANG | Journal of clinical immunology | 5 | 2 | |
2022 | Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience | Cho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE ; SHIH-YAO LIU ; Huang, Shu-Yuan; YIN-HSIU CHIEN ; WUH-LIANG HWU ; NI-CHUNG LEE ; YI-CHING TUNG | Journal of the Formosan Medical Association | 9 | 7 | |
2013 | Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin | Wang J.; Cui H.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Craigen W.J.; Wong L.-J.; Zhang V.W. | Genetics in Medicine | 64 | 47 | |
2010 | Clinical aspects and genetic analysis of Taiwanese patients with Wiskott-Aldrich syndrome protein mutation: The first identification of X-linked thrombocytopenia in the Chinese with novel mutations | Lee W.-I.; Huang J.-L.; Jaing T.-H.; Wu K.-H.; YIN-HSIU CHIEN ; Chang K.-W. | Journal of Clinical Immunology | 19 | 14 | |
2007 | Clinical aspects and molecular analysis of Chinese patients with Wiskott-Aldrich syndrome in Taiwan | Lee W.-I.; Yang C.-Y.; Jaing T.-H.; Huang J.-L.; YIN-HSIU CHIEN ; Chang K.-W. | International Archives of Allergy and Immunology | 8 | 9 | |
2014 | Clinical characteristics and outcomes of primary antibody deficiency: A 20-year follow-up study | Chan H.-Y.; YAO-HSU YANG ; HSIN-HUI YU ; YIN-HSIU CHIEN ; Chiang L.-L.; BOR-LUEN CHIANG | Journal of the Formosan Medical Association | 17 | 14 | |
2018 | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS) | Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Lin, Ju-Li; SHAU-PING LIN | Orphanet Journal of Rare Diseases | 11 | 11 | |
2018 | Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening | SHIH-YAO LIU ; CHENG-TING LEE ; YI-CHING TUNG ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Tsai W.-Y. | Journal of the Formosan Medical Association | 10 | 11 | |
2023 | Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson's Disease in a Taiwanese Population: An 11-Year Follow-Up Study | Fan, Sung-Pin; Kuo, Yih-Chih; NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Huang, Yu-Hsuan; Lin, Han-I; TAI-CHUNG TSENG ; TUNG-HUNG SU ; SHIOU-RU TZENG ; Hsu, Chien-Ting; HUEY-LING CHEN ; CHIN-HSIEN LIN ; YEN-HSUAN NI | Journal of Movement Disorders | 2 | | |
2013 | Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype | Lee W.-I.; Huang J.-L.; Yeh K.-W.; Yang M.-J.; Lai M.-C.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin S.-J.; Jaing T.-H.; Chen S.-H.; Hsieh M.-Y.; HSIN-HUI YU ; YIN-HSIU CHIEN ; Shyur S.-D. | Pediatric Infectious Disease Journal | 21 | 18 | |