Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient by Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

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Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation by Jun Mori, Tatsuji Hasegawa, Yosuke Miyamoto, Kazumasa Kitamura, Hidechika Morimoto, Takenori Tozawa, Ritsuko Kimata Pooh, Tomohiro Chiyonobu

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Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants by Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara

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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8 by Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu

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Cytomegalovirus-associated biliary atresia by Kazuki Kodo, Kenichi Sakamoto, Tomohiko Imai, Takeshi Ota, Mitsuru Miyachi, Jun Mori, Tomohiro Chiyonobu, Tetsuya Imura, Hajime Hosoi

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Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease by Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai

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Plasma neurofilament light chain: A potential prognostic biomarker of dementia in adult Down syndrome patients. by Makiko Shinomoto, Takashi Kasai, Harutsugu Tatebe, Masaki Kondo, Takuma Ohmichi, Masafumi Morimoto, Tomohiro Chiyonobu, Naoto Terada, David Allsop, Isao Yokota, Toshiki Mizuno, Takahiko Tokuda

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Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants by Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu

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Increased levels of plasma total tau in adult Down syndrome. by Takashi Kasai, Harutsugu Tatebe, Masaki Kondo, Ryotaro Ishii, Takuma Ohmichi, Wing Tung Esther Yeung, Masafumi Morimoto, Tomohiro Chiyonobu, Naoto Terada, David Allsop, Masanori Nakagawa, Toshiki Mizuno, Takahiko Tokuda

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