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American Journal of Human Genetics|September 29, 2015
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic SyndromeNoriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, et al.Science Advances|May 25, 2022
Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathologyKoyo Tsujikawa, Kohei Hamanaka, Yuichi Riku, et al.Journal of Human Genetics|January 22, 2025
Clinical and genetic spectrum of patients with IRF2BPL syndromeKazuhiro Iwama, Mitsuhiro Kato, Yuri Uchiyama, et al.Nature Genetics|March 20, 2012
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndromeYoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, et al.Epilepsia Open|September 11, 2020
Clinical and genetic characteristics of patients with Doose syndromeNodoka Hinokuma, Mitsuko Nakashima, Hideyuki Asai, et al.Journal of Neurology, Neurosurgery, and Psychiatry|May 30, 2024
Complete nanopore repeat sequencing of SCA27B (GAA-<i>FGF14</i> ataxia) in JapaneseSatoko Miyatake, Hiroshi Doi, Hiroaki Yaguchi, et al.Acta Neuropathologica Communications|March 2, 2023
An integrated genetic analysis of epileptogenic brain malformed lesionsAtsushi Fujita, Mitsuhiro Kato, Hidenori Sugano, et al.Annals of Neurology|December 11, 2012
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephalyYuriko Yoneda, Kazuhiro Haginoya, Mitsuhiro Kato, et al.Human Mutation|November 1, 2020
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathyToshiyuki Itai, Kohei Hamanaka, Kazunori Sasaki, et al.American Journal of Human Genetics|September 27, 2016
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative EncephalopathyNoriko Miyake, Ryoko Fukai, Chihiro Ohba, et al.Pageof 22