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Brain & Development|December 4, 2020
The eldest case of MICPCH with CASK mutation exhibiting gross motor regressionYosuke Nishio, Hiroyuki Kidokoro, Toshiki Takeo, et al.Human Genome Variation|April 14, 2026
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variantToshihiko Iwaki, Yosuke Nishio, Sachiyo Takagi, et al.Human Genome Variation|December 3, 2024
Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variantMoemi Hojo, Noriko Soma, Kei Yamada, et al.Internal Medicine (Tokyo, Japan)|October 22, 2025
A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12Yohei Iguchi, Koyo Tsujikawa, Ayuka Murakami, et al.Human Genome Variation|May 28, 2025
De novo CDKN1C variant in Beckwith-Wiedermann spectrum with atypical complicationsYuri Moriura, Yosuke Nishio, Shintaro Ichimura, et al.The Journal of Clinical Investigation|September 9, 2025
TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophyYuka Nakazawa, Lin Ye, Yasuyoshi Oka, et al.HGG Advances|September 15, 2023
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndromeYosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, et al.European Journal of Pediatrics|April 4, 2025
Early discontinuation of steroid treatment in children with abdominal pain due to IgA vasculitisSumika Kambara, Nobuhiro Nishio, Yuichiro Sugiyama, et al.Journal of Medical Genetics|September 16, 2022
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndromeShiomi Otsuji, Yosuke Nishio, Maki Tsujita, et al.Scientific Reports|August 26, 2022
Whole-exome analysis of 177 pediatric patients with undiagnosed diseasesKotaro Narita, Hideki Muramatsu, Satoshi Narumi, et al.Pageof 3