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Epilepsia Open|August 24, 2019
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absencesTakuya Hiraide, Ayako Hattori, Daisuke Ieda, et al.Brain & Development|August 20, 2024
A nationwide survey of Vici syndrome in JapanIkumi Hori, Toshihiko Iwaki, Emi Sato, et al.Brain & Development|October 26, 2017
A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by feverYuji Nakamura, Ayako Hattori, Mitsuko Nakashima, et al.Human Genome Variation|April 3, 2019
A novel splicing mutation in SLC9A6 in a boy with Christianson syndromeDaisuke Ieda, Ikumi Hori, Yuji Nakamura, et al.Journal of Human Genetics|October 12, 2022
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunctionMasanori Fujimoto, Yuji Nakamura, Toshihiko Iwaki, et al.Brain & Development|January 6, 2021
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variantIkumi Hori, Daisuke Ieda, Shogo Ito, et al.Brain & Development|May 8, 2022
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variantKosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, et al.Orphanet Journal of Rare Diseases|December 4, 2019
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancyYutaka Negishi, Daisuke Ieda, Ikumi Hori, et al.Scientific Reports|January 14, 2026
Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activationEmi Sato, Yuji Nakamura, Masanori Fujimoto, et al.Brain & Development|December 17, 2021
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1AKouji Isobe, Daisuke Ieda, Fuyuki Miya, et al.Pageof 2