A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

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Generation of an induced pluripotent stem cell line (PNUYHi003-A) from peripheral blood mononuclear cells of a patient with neuronal intranuclear inclusion disease by Tae-Yun Kim, Mi Kyoung Kim, Takeshi Mizuguchi, Naomichi Matsumoto, Jae-Hyeok Lee, Eun-Joo Kim, Na-Yeon Jung

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Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature by Takeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu, Atsushi Fujita, Kazuharu Misawa, Kazuhiko Nakabayashi, Satoko Miyatake, Naomichi Matsumoto

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Non-coding repeat analyses in patients with Parkinson’s disease by Makito Hirano, Makoto Samukawa, Satoko Miyatake, Satoko Miyatake, Yuko Yamagishi, Chiharu Isono, Rino Yoshikawa, Kazumasa Saigoh, Atsushi Terayama, Yuji Higashimoto, Eriko Koshimizu, Takeshi Mizuguchi, Kanako Fujii, Yoshiyuki Mitsui, Naomichi Matsumoto, Naomichi Matsumoto, Naomichi Matsumoto, Yoshitaka Nagai

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