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Electrophoresis
|
January 13, 2009
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
Chia-Cheng Hung, Shin-Yu Lin, Shuan-Pei Lin, et al.
European Journal of Medicinal Chemistry
|
December 23, 2022
Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells
Hung-Yi Lin, Shih-Ying Chang, Hsuan-Hsuan Teng, et al.
Pediatrics and Neonatology
|
September 23, 2018
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Yuan Ke, et al.
Molecular Genetics & Genomic Medicine
|
October 9, 2018
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, et al.
Diagnostics (Basel, Switzerland)
|
January 8, 2025
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series
Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
November 9, 2010
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
Chih-Ping Chen, Yung-Ting Kuo, Shuan-Pei Lin, et al.
Molecular Genetics and Metabolism
|
May 31, 2011
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model
Dar-Shong Lin, Chung-Der Hsiao, Ian Liau, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 1, 2019
Training in clinical genetics and genetic counseling in Asia
Eva Maria Cutiongco-de la Paz, Brian Hon-Yin Chung, Sultana M H Faradz, et al.
Molecular Genetics and Metabolism
|
May 25, 2016
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency
Yin-Hsiu Chien, Pin-Wen Chen, Ni-Chung Lee, et al.
Page
of 29
Search research articles
Search
Showing results (191-200 of 281) with videos related to
Sort By:
Page
of 29
Electrophoresis
|
January 13, 2009
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
Chia-Cheng Hung, Shin-Yu Lin, Shuan-Pei Lin, et al.
European Journal of Medicinal Chemistry
|
December 23, 2022
Discovery of small-molecule protein stabilizers toward exogenous alpha-l-iduronidase to reduce the accumulated heparan sulfate in mucopolysaccharidosis type I cells
Hung-Yi Lin, Shih-Ying Chang, Hsuan-Hsuan Teng, et al.
Pediatrics and Neonatology
|
September 23, 2018
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
Hsiang-Yu Lin, Chih-Kuang Chuang, Yu-Yuan Ke, et al.
Molecular Genetics & Genomic Medicine
|
October 9, 2018
The relationships between urinary glycosaminoglycan levels and phenotypes of mucopolysaccharidoses
Hsiang-Yu Lin, Chung-Lin Lee, Yun-Ting Lo, et al.
Diagnostics (Basel, Switzerland)
|
January 8, 2025
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series
Hung-Hsiang Fang, Chung-Lin Lee, Hui-Ju Chen, et al.
Taiwanese Journal of Obstetrics & Gynecology
|
November 9, 2010
Mosaic ring chromosome 18, ring chromosome 18 duplication/deletion and disomy 18: perinatal findings and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization
Chih-Ping Chen, Yung-Ting Kuo, Shuan-Pei Lin, et al.
Molecular Genetics and Metabolism
|
May 31, 2011
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model
Dar-Shong Lin, Chung-Der Hsiao, Ian Liau, et al.
Journal of Inherited Metabolic Disease
|
May 10, 2014
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J Hendriksz, Barbara Burton, Thomas R Fleming, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
May 1, 2019
Training in clinical genetics and genetic counseling in Asia
Eva Maria Cutiongco-de la Paz, Brian Hon-Yin Chung, Sultana M H Faradz, et al.
Molecular Genetics and Metabolism
|
May 25, 2016
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency
Yin-Hsiu Chien, Pin-Wen Chen, Ni-Chung Lee, et al.
Page
of 29