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Human Molecular Genetics|January 3, 2018
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 geneXiao-Meng Yin, Jing-Han Lin, Li Cao, et al.
American Journal of Human Genetics|June 11, 2019
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related DisordersYun Tian, Jun-Ling Wang, Wen Huang, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 24, 2018
Coding mutations in NUS1 contribute to Parkinson's diseaseJi-Feng Guo, Lu Zhang, Kai Li, et al.
Nature Genetics|September 18, 2012
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosisSheng-Quan Zhang, Tao Jiang, Min Li, et al.
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