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American Journal of Medical Genetics. Part A|December 21, 2018
SOFT syndrome in a patient from ChileKen Saida, Sebastian Silva, Benjamin Solar, et al.Journal of Human Genetics|March 2, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxiaHiroyuki Fukuda, Eri Imagawa, Kohei Hamanaka, et al.Journal of Human Genetics|December 12, 2022
A novel homozygous CHMP1A variant arising from segmental uniparental disomy causes pontocerebellar hypoplasia type 8Masamune Sakamoto, Toshihide Shiiki, Shuji Matsui, et al.Journal of Human Genetics|August 17, 2023
Complete SAMD12 repeat expansion sequencing in a four-generation BAFME1 family with anticipationTakeshi Mizuguchi, Tomoko Toyota, Eriko Koshimizu, et al.Genome Research|June 12, 2023
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humansKohei Hamanaka, Daisuke Yamauchi, Eriko Koshimizu, et al.Brain & Development|July 11, 2019
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencingAyaka Hirasawa-Inoue, Akihiko Ishiyama, Eri Takeshita, et al.Journal of Human Genetics|September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic featuresShinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.Journal of Human Genetics|January 11, 2023
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicismRie Seyama, Yuri Uchiyama, Yosuke Kaneshi, et al.Journal of Human Genetics|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunctionMasamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.Journal of Human Genetics|November 13, 2025
Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivityAtsuhiro Ozaki, Masamune Sakamoto, Satoko Kumada, et al.Pageof 8