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Clinical Genetics|October 17, 2022
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cordParith Wongkittichote, Tae-Ik Choi, Oc-Hee Kim, et al.Molecular Genetics and Metabolism|July 1, 2023
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ<sub>10</sub> deficiency: Hypomorphic variants and two distinct disease entitiesParith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, et al.Molecular Genetics and Metabolism|December 31, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiencyVi Pham, Livia Sertori Finoti, Margaret M Cassidy, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|August 22, 2024
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiencyVi Pham, Lucas Tricoli, Xinying Hong, et al.Human Molecular Genetics|November 12, 2025
High depth targeted next-generation sequencing in vascular malformationsPattima Pakhathirathien, Parith Wongkittichote, Sanchawan Wittayakornrerk, et al.Pageof 4