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Brain : a Journal of Neurology|March 31, 2022
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndromeSatoko Miyatake, Kunihiro Yoshida, Eriko Koshimizu, et al.NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.Neurobiology of Disease|June 24, 2019
Ataxic phenotype with altered Ca<sub>V</sub>3.1 channel property in a mouse model for spinocerebellar ataxia 42Shunta Hashiguchi, Hiroshi Doi, Misako Kunii, et al.Journal of Human Genetics|December 17, 2025
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.Annals of Neurology|June 10, 2020
SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain MalformationTariq Zaman, Katherine L Helbig, Jérôme Clatot, et al.Cell Reports|January 19, 2018
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum DisorderAtsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, et al.European Journal of Human Genetics : EJHG|March 27, 2023
Molecular diagnosis of 405 individuals with autism spectrum disorderNoriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, et al.Science Advances|March 25, 2021
De novo ATP1A3 variants cause polymicrogyriaSatoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, et al.Journal of Medical Genetics|March 8, 2019
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencingKazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, et al.American Journal of Human Genetics|August 10, 2022
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanodeDana Marafi, Nina Kozar, Ruizhi Duan, et al.Pageof 22