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Molecular Genetics and Metabolism Reports
|
May 24, 2021
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Journal of Human Genetics
|
November 12, 2005
Cystic fibrosis with homozygous R553X mutation in a Taiwanese child
Hui-Ju Chen, Shuan-Pei Lin, Hung-Chang Lee, et al.
American Journal of Human Genetics
|
January 17, 2018
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, et al.
Medicine
|
February 9, 2018
Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report
Chia-Huei Peng, Chyong-Hsin Hsu, Nien-Lu Wang, et al.
American Journal of Medical Genetics. Part A
|
April 10, 2014
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7
Cheng-Fang Li, Hsiang-Yu Lin, Hao-Chuan Liu, et al.
Scientific Reports
|
July 26, 2019
Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis
Hsiang-Yu Lin, Yun-Ting Lo, Tuan-Jen Wang, et al.
Cell Death & Disease
|
April 29, 2024
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential
Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, et al.
European Journal of Pediatrics
|
September 26, 2002
Omphalocele and gastroschisis in Taiwan
Chia-Chi Hsu, Shuan-Pei Lin, Chao-Huei Chen, et al.
International Journal of Medical Sciences
|
February 24, 2025
Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Children (Basel, Switzerland)
|
November 27, 2025
Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure
Yung-Han Hsu, Chuen-Bin Jiang, Jen-Yin Hou, et al.
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of 29
Search research articles
Search
Showing results (121-130 of 281) with videos related to
Sort By:
Page
of 29
Molecular Genetics and Metabolism Reports
|
May 24, 2021
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Journal of Human Genetics
|
November 12, 2005
Cystic fibrosis with homozygous R553X mutation in a Taiwanese child
Hui-Ju Chen, Shuan-Pei Lin, Hung-Chang Lee, et al.
American Journal of Human Genetics
|
January 17, 2018
Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, et al.
Medicine
|
February 9, 2018
Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report
Chia-Huei Peng, Chyong-Hsin Hsu, Nien-Lu Wang, et al.
American Journal of Medical Genetics. Part A
|
April 10, 2014
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7
Cheng-Fang Li, Hsiang-Yu Lin, Hao-Chuan Liu, et al.
Scientific Reports
|
July 26, 2019
Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis
Hsiang-Yu Lin, Yun-Ting Lo, Tuan-Jen Wang, et al.
Cell Death & Disease
|
April 29, 2024
Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential
Tzu-Yu Chen, Shuan-Pei Lin, De-Fong Huang, et al.
European Journal of Pediatrics
|
September 26, 2002
Omphalocele and gastroschisis in Taiwan
Chia-Chi Hsu, Shuan-Pei Lin, Chao-Huei Chen, et al.
International Journal of Medical Sciences
|
February 24, 2025
Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks
Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Children (Basel, Switzerland)
|
November 27, 2025
Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure
Yung-Han Hsu, Chuen-Bin Jiang, Jen-Yin Hou, et al.
Page
of 29