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Biomedicines|February 25, 2023
Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric PatientsMeng-Che Tsai, Yun-Han Weng, Yu-Fang Lin, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 19, 2010
Rescue of defective G protein-coupled receptor function in vivo by intermolecular cooperationAdolfo Rivero-Müller, Yen-Yin Chou, Inhae Ji, et al.
European Journal of Endocrinology|December 8, 2009
A new FSHbeta mutation in a 29-year-old woman with primary amenorrhea and isolated FSH deficiency: functional characterization and ovarian response to human recombinant FSHMarie-Laure Kottler, Yen-Yin Chou, Olivier Chabre, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 2, 2015
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatographyYu-Ning Liu, Tze-Tze Liu, Ya-Ling Fan, et al.
Children (Basel, Switzerland)|April 27, 2024
Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and PerspectivesTung-Hee Tie, Wei-Han Lin, Ming-Tung Huang, et al.
Molecular Genetics and Metabolism Reports|May 7, 2020
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiencesYin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, et al.
Nutrients|May 28, 2022
Postnatal Serum Total Thyroxine Level Associated with Short- and Long-Term Anthropometric Outcomes in Very Preterm InfantsYen-Ju Chen, Wei-Ying Chu, Yu-Wen Pan, et al.
Nutrients|April 3, 2021
Postnatal Serum Total Thyroxine of Very Preterm Infants and Long-Term Neurodevelopmental OutcomeYung-Chieh Lin, Chen-Yueh Wang, Yu-Wen Pan, et al.
Human Mutation|July 12, 2020
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromeHsiao-Jung Kao, Hung-Lun Chiang, Hsiao-Huei Chen, et al.
Frontiers in Genetics|April 25, 2022
Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel <i>CREBBP</i> VariantYu-Rong Lee, Yu-Chen Lin, Yi-Han Chang, et al.
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