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Shuan-Pei Lin

Showing results (161-170 of 281) with videos related to

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Children (Basel, Switzerland)|June 24, 2022
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello SyndromeYu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, et al.
Orphanet Journal of Rare Diseases|February 24, 2021
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis IIHsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Prenatal Diagnosis|June 21, 2005
Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimeraChih-Ping Chen, Schu-Rern Chern, Jin-Chern Sheu, et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi|October 3, 2003
Percutaneous endoscopic gastrostomy in children: 15 cases experienceTing-Chi Yeh, Chun-Yan Yeung, Jin-Cherng Sheu, et al.
Molecular Genetics & Genomic Medicine|February 28, 2023
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia populationRai-Hseng Hsu, Chen-Hao Lee, Yin-Hsiu Chien, et al.
Pediatrics and Neonatology|March 16, 2015
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes DiseaseYi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, et al.
Molecular Genetics & Genomic Medicine|July 26, 2024
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosisChung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, et al.
Children (Basel, Switzerland)|November 27, 2025
From Overgrowth to Complex Malformations: A Novel <i>EZH2</i> Variant Reveals the Expanding Clinical Spectrum of Weaver SyndromeChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Molecular Genetics and Metabolism|July 16, 2011
Rapid progressive course of later-onset Pompe disease in Chinese patientsChih-Chao Yang, Yin-Hsiu Chien, Ni-Chung Lee, et al.
Molecular Genetics and Metabolism|March 6, 2014
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidosesHsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Pageof 29

Showing results (161-170 of 281) with videos related to

Sort By:
Pageof 29
Children (Basel, Switzerland)|June 24, 2022
Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello SyndromeYu-Min Syu, Hung-Chang Lee, Jui-Hsing Chang, et al.
Orphanet Journal of Rare Diseases|February 24, 2021
Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis IIHsiang-Yu Lin, Ming-Ren Chen, Chung-Lin Lee, et al.
Prenatal Diagnosis|June 21, 2005
Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimeraChih-Ping Chen, Schu-Rern Chern, Jin-Chern Sheu, et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi|October 3, 2003
Percutaneous endoscopic gastrostomy in children: 15 cases experienceTing-Chi Yeh, Chun-Yan Yeung, Jin-Cherng Sheu, et al.
Molecular Genetics & Genomic Medicine|February 28, 2023
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia populationRai-Hseng Hsu, Chen-Hao Lee, Yin-Hsiu Chien, et al.
Pediatrics and Neonatology|March 16, 2015
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes DiseaseYi-Jie Lin, Che-Sheng Ho, Chyong-Hsin Hsu, et al.
Molecular Genetics & Genomic Medicine|July 26, 2024
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosisChung-Lin Lee, Yeun-Wen Chang, Hsiang-Yu Lin, et al.
Children (Basel, Switzerland)|November 27, 2025
From Overgrowth to Complex Malformations: A Novel <i>EZH2</i> Variant Reveals the Expanding Clinical Spectrum of Weaver SyndromeChung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, et al.
Molecular Genetics and Metabolism|July 16, 2011
Rapid progressive course of later-onset Pompe disease in Chinese patientsChih-Chao Yang, Yin-Hsiu Chien, Ni-Chung Lee, et al.
Molecular Genetics and Metabolism|March 6, 2014
Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidosesHsiang-Yu Lin, Shou-Chuan Shih, Chih-Kuang Chuang, et al.
Pageof 29