公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2000 | Identification and characterization of -3c-g acceptor splice site mutation in human α-L-iduronidase associated with mucopolysaccharidosis type IH/S | Teng Y.N.; Wang T.R.; WUH-LIANG HWU ; Lin S.P.; Lee-Chen G.J. | Clinical Genetics | 21 | 18 | |
2008 | [Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency]. | Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU ; Zhang C.H.; Kobayashi K. | Zhonghua er ke za zhi. Chinese journal of pediatrics | 10 | 0 | |
2007 | Identification and management of cardiac perforation from a double lumen catheter in an infant [6] | CHING-CHIA WANG ; Chen Y.-W.; EN-TING WU ; YIN-HSIU CHIEN ; WUH-LIANG HWU ; Ko W.-J.; SHU-CHIEN HUANG | Paediatric Anaesthesia | 3 | 2 | |
2008 | Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II | Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU ; Yang C.-C.; Tsai C.-H.; Tsai F.-J. | Journal of Neurology | 50 | 46 | |
2006 | Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. | MING-JEN LEE ; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; WUH-LIANG HWU ; FON-JOU HSIEH ; Stephenson D.A.; CHIA-LI YU | Human mutation | 32 | 27 | |
1988 | Idiopathic inflammatory bowel disease in children and adolescents. | WUH-LIANG HWU ; MEI-HWEI CHANG ; Wang C.Y.; Huang S.H.; How S.W.; Hsieh K.H.; Hsu J.Y. | Journal of the Formosan Medical Association | 2 | 0 | |
2012 | IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice | LI-KAI TSAI ; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; WUH-LIANG HWU ; Cheng S.H.; Passini M.A. | Neurobiology of Disease | 40 | 38 | |
2022 | Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test | HUI-AN CHEN ; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; NI-CHUNG LEE ; WUH-LIANG HWU ; Chiu P.-C.; YIN-HSIU CHIEN | Molecular Genetics and Metabolism | 8 | 5 | |
1993 | In Vitro DNA Methylation Inhibits FMR-1 Promoter | WUH-LIANG HWU ; Lee Y.M.; Lee S.C.; Wang T.R. | Biochemical and Biophysical Research Communications | 34 | 36 | |
2015 | Incidence of severe combined immunodeficiency through newborn screening in a Chinese population | YIN-HSIU CHIEN ; Chiang S.-C.; Chang K.-L.; HSIN-HUI YU ; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU | Journal of the Formosan Medical Association | 56 | 37 | |
2009 | Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004 | Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU ; Lin J.-L. | American Journal of Medical Genetics, Part A | 155 | 139 | |
2002 | An infant with heart murmur and dysmorphic face | YIN-HSIU CHIEN ; Kuo P.-L.; WUH-LIANG HWU | Acta Paediatrica Taiwanica | 1 | 0 | |
2017 | The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease | Burton B.K.; Kronn D.F.; WUH-LIANG HWU ; Kishnani P.S. | Pediatrics | 28 | 13 | |
2016 | Integrated care for Down syndrome | NI-CHUNG LEE ; YIN-HSIU CHIEN ; WUH-LIANG HWU | Congenital Anomalies | 1 | 1 | |
2012 | Integrating human genome database into electronic health record with sequence alignment and compression mechanism | Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN ; WUH-LIANG HWU | Journal of Medical Systems | 6 | 5 | |
2017 | Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement | Kishnani P.S.; WUH-LIANG HWU | Pediatrics | 10 | 6 | |
2005 | KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3 | Lin L.-K.; YIN-HSIU CHIEN ; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; WUH-LIANG HWU | Molecular Vision | 21 | 17 | |
2007 | Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism | CHIN-HSIEN LIN ; WUH-LIANG HWU ; Chiang S.-C.; CHUN-HWEI TAI ; RUEY-MEEI WU | American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics | 8 | 7 | |
2012 | Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing | Kim J.C.; NI-CHUNG LEE ; WUH-LIANG HWU ; YIN-HSIU CHIEN ; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S. | Molecular Genetics and Metabolism | 28 | 24 | |
2000 | Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation | WUH-LIANG HWU ; Suzuki Y.; Yang X.; Li X.; Chou S.-P.; Narisawa K.; WEN-YU TSAI | Journal of the Formosan Medical Association | 9 | 7 |