公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2019 | Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum | CHENG-TING LEE ; YI-CHING TUNG ; WUH-LIANG HWU ; JIN-CHUNG SHIH ; WEN-HSI LIN ; MU-ZON WU ; KUAN-TING KUO ; YUNG-LI YANG ; HUEY-LING CHEN ; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU ; Tsai W.-Y.; NI-CHUNG LEE | American Journal of Medical Genetics, Part A | 5 | 5 | |
1995 | MPS I: Mutation and Polymorphism | Guey-Jen Lee-Chen; Yow-Ching Cherng; Chiou-Yen Lai; Mei-Neng Liu; WUH-LIANG HWU ; Tso-Ren Wang | 師大生物學報 | | 0 | |
2001 | MRI in a case of adult-onset citrullinemia | YA-FANG CHEN ; Huang Y.-C.; HON-MAN LIU ; WUH-LIANG HWU | Neuroradiology | 20 | 20 | |
2018 | Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period | Lin H.-Y.; Chuang C.-K.; Lee C.-L.; Tu R.-Y.; Lo Y.-T.; Chiu P.C.; Niu D.-M.; Fang Y.-Y.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU ; Lin S.J.; Chang T.-M.; Lin S.-P. | American Journal of Medical Genetics, Part A | 24 | 23 | |
1998 | Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan | Su P.-H.; WUH-LIANG HWU ; Chiang S.-C.; Chiu P.-C.; Lin S.-J.; Shu S.-G.; Wang T.-R. | Journal of the Formosan Medical Association | 1 | 1 | |
2015 | Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes | YIN-HSIU CHIEN ; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU ; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J. | Orphanet Journal of Rare Diseases | 35 | 26 | |
2014 | A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy | Giugliani R.; WUH-LIANG HWU ; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A. | Genetics in Medicine | 32 | 30 | |
2012 | Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer | WEN-HUNG KUO ; PO-HAN LIN ; Huang A.-C.; YIN-HSIU CHIEN ; Liu T.-P.; YEN-SHEN LU ; Bai L.-Y.; Sargeant A.M.; CHING-HUNG LIN ; ANN-LII CHENG ; FON-JOU HSIEH ; WUH-LIANG HWU ; KING-JEN CHANG | Journal of Human Genetics | 19 | 19 | |
2014 | Mutant EXT1 in Taiwanese patients with multiple hereditary exostoses | Lin W.-D.; WUH-LIANG HWU ; Wang C.-H.; Tsai F.-J. | BioMedicine (Netherlands) | 1 | 0 | |
2006 | Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations | Wan L.; Hsu C.-M.; Tsai C.-H.; Lee C.-C.; WUH-LIANG HWU ; Tsai F.-J. | Blood Cells, Molecules, and Diseases | 46 | 41 | |
2008 | Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy | Wang S.-B.; WEN-CHIN WENG ; NI-CHUNG LEE ; WUH-LIANG HWU ; PI-CHUAN FAN ; WANG-TSO LEE | Pediatrics and Neonatology | 49 | 0 | |
2012 | Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome | Wang S.-H.; Chen-Chi Wu ; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU ; Yu I.-S.; Hsu C.-J. | Laryngoscope | 28 | 19 | |
2004 | Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation. | YIN-HSIU CHIEN ; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; WUH-LIANG HWU | Human mutation | 33 | 0 | |
2016 | Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene | NI-CHUNG LEE ; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU | Human Molecular Genetics | 18 | 16 | |
2019 | Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency | HSIN-HUI YU ; Hu T.-C.; NI-CHUNG LEE ; YIN-HSIU CHIEN ; YAO-HSU YANG ; WUH-LIANG HWU ; BOR-LUEN CHIANG | Journal of Microbiology, Immunology and Infection | 5 | 4 | |
2008 | Myopathy in Gaucher disease | LI-KAI TSAI ; YIN-HSIU CHIEN ; Yang C.-C.; WUH-LIANG HWU | Journal of Inherited Metabolic Disease | 3 | 0 | |
2013 | Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease | YIN-HSIU CHIEN ; DER-SHENG HAN ; WUH-LIANG HWU ; Thurberg B.L.; WEI-SHIUNG YANG | PLoS ONE | 15 | 14 | |
2010 | Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan | Niu D.-M.; YIN-HSIU CHIEN ; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU ; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. | Journal of Inherited Metabolic Disease | 130 | 111 | |
2014 | Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA | Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU ; Lin J.-L.; Lin S.-P. | Orphanet Journal of Rare Diseases | 25 | 25 | |
2018 | Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan | WUH-LIANG HWU ; YIN-HSIU CHIEN ; NI-CHUNG LEE ; Li M.-H. | JIMD Reports | 30 | 31 | |