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Pediatrics and Neonatology
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December 23, 2022
Occurrence of sotos syndrome and coffin-siris syndrome in a family
Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, et al.
Molecular Genetics and Metabolism Reports
|
September 16, 2024
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Orphanet Journal of Rare Diseases
|
November 11, 2023
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Pediatrics and Neonatology
|
January 4, 2025
Double-outlet right ventricle in a patient with Takenouchi-Kosaki syndrome
Po-Jung Lai, Wei-Chieh Tseng, Hui-An Chen, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
Molecular Genetics and Metabolism Reports
|
September 1, 2022
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 10, 2025
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis
Yin-Hsuan Chien, Hui-An Chen, Rai-Hseng Hsu, et al.
Translational Pediatrics
|
May 20, 2021
Clinical application of fractional exhaled nitric oxide and nasal nitric oxide levels for the assess eosinophilic inflammation of allergic rhinitis among children
Jia-Ying Luo, Hui-An Chen, Jing Ma, et al.
Molecular Genetics & Genomic Medicine
|
June 21, 2022
Asymptomatic ASS1 carriers with high blood citrulline levels
Hui-An Chen, Rai-Hseng Hsu, Kai-Ling Chang, et al.
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Search research articles
Search
Showing results (1-10 of 21) with videos related to
Sort By:
Page
of 3
Pediatrics and Neonatology
|
December 23, 2022
Occurrence of sotos syndrome and coffin-siris syndrome in a family
Hui-An Chen, Nai-Qi Chen, Rai-Hseng Hsu, et al.
Molecular Genetics and Metabolism Reports
|
September 16, 2024
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Orphanet Journal of Rare Diseases
|
November 11, 2023
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, et al.
Pediatrics and Neonatology
|
January 4, 2025
Double-outlet right ventricle in a patient with Takenouchi-Kosaki syndrome
Po-Jung Lai, Wei-Chieh Tseng, Hui-An Chen, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui-An Chen, Rai-Hseng Hsu, Li-Chu Chen, et al.
JIMD Reports
|
September 13, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan
Wuh-Liang Hwu, Rai-Hseng Hsu, Mei-Hsin Li, et al.
Molecular Genetics and Metabolism Reports
|
September 1, 2022
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
Hui-An Chen, Rai-Hseng Hsu, Pin-Wen Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 10, 2025
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis
Yin-Hsuan Chien, Hui-An Chen, Rai-Hseng Hsu, et al.
Translational Pediatrics
|
May 20, 2021
Clinical application of fractional exhaled nitric oxide and nasal nitric oxide levels for the assess eosinophilic inflammation of allergic rhinitis among children
Jia-Ying Luo, Hui-An Chen, Jing Ma, et al.
Molecular Genetics & Genomic Medicine
|
June 21, 2022
Asymptomatic ASS1 carriers with high blood citrulline levels
Hui-An Chen, Rai-Hseng Hsu, Kai-Ling Chang, et al.
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of 3