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Signal Transduction and Targeted Therapy|February 29, 2024
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypesQing Zhang, Mengen Xing, Zhengkai Bao, et al.
Progress in Neurobiology|June 20, 2022
Recurrent de novo single point variant on the gene encoding Na+/K+ pump results in epilepsyRan Duan, Hong-Ming Li, Wen-Bao Hu, et al.
Neuroscience Letters|July 31, 2013
Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseasesJun-Ling Wang, Xiao Mao, Zheng-Mao Hu, et al.
Plos One|September 3, 2014
Genetic diagnosis of two dopa-responsive dystonia families by exome sequencingZhan-fang Sun, Yu-han Zhang, Ji-feng Guo, et al.
Plos One|December 7, 2013
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxiaYuting Shi, Junling Wang, Jia-Da Li, et al.
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