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Frontiers in Pediatrics|December 5, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseasesMeiyan Liu, Xiaoang Sun, Longlong Lin, et al.Medical Science Monitor : International Medical Journal of Experimental and Clinical Research|February 7, 2018
Dopa-Responsive Dystonia in Han Chinese Patients: One Novel Heterozygous Mutation in GTP Cyclohydrolase 1 (GCH1) and Three Known Mutations in THKunfang Yang, Rongrong Yin, Xiaoping Lan, et al.Human Genetics|January 26, 2020
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowthYu An, Linna Zhang, Wenwen Liu, et al.Molecular Genetics and Metabolism Reports|April 14, 2025
The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemiaFang Yuan, Xiaozhen Song, Rongrong Yin, et al.Internal Medicine (Tokyo, Japan)|June 21, 2021
Novel Mutations of the ALMS1 Gene in Patients with Alström SyndromeChunmei Wang, Xiaona Luo, Yilin Wang, et al.Frontiers in Cell and Developmental Biology|April 7, 2022
Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their MechanismsXiaona Luo, Xiaoang Sun, Yilin Wang, et al.Frontiers in Genetics|March 17, 2020
MED12-Related Disease in a Chinese Girl: Clinical Characteristics and Underlying MechanismChao Wang, Longlong Lin, Yan Xue, et al.Journal of the Neurological Sciences|June 20, 2020
Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13Simei Wang, Longlong Lin, Yilin Wang, et al.Frontiers in Pediatrics|December 16, 2021
Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ GeneXiaona Luo, Chunmei Wang, Longlong Lin, et al.Pageof 3