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Research Interests

Papers共 45 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
Naoko Yano,Pin Fee Chong,Kenji K Kojima, Tomoichiro Miyoshi, Ahmad Luqmen-Fatah,Yu Kimura, Kengo Kora, Taisei Kayaki, Kanako Maizuru, Takahiro Hayashi, Atsushi Yokoyama,Masahiko Ajiro,
Journal of medical genetics (2024)
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Alternating cerebral edema and arterial dilations in Molybdenum cofactor deficiency type-A
Amane Matsuura,Takenori Tozawa, Masaharu Moroto, Yosuke Miyamoto, Yasuhiro Kawabe,Masashi Zuiki,Tatsuji Hasegawa, Taisei Kayaki, Naoko Yano,Takeshi Yoshida, Tomohiro Chiyonobu,Masafumi Morimoto,
Journal of inherited metabolic disease (2024)
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A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria
Mutsuo Kouhashi, Kayoko Yukawa,Naoko Yano,Marne C. Hagemeijer, Shinya Hirata, Daisuke Kambe,Atsushi Yokoyama,Akira Yoshida, Kengo Kora, Corline J. de Ronde, Sandrien Vrieswijk, Eric van der Meijden,
Neurology Geneticsno. 3 (2024)
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A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes
Mutsuo Kouhashi, Kayoko Yukawa,Naoko Yano,Marne C Hagemeijer, Shinya Hirata, Daisuke Kambe,Atsushi Yokoyama,Akira Yoshida, Kengo Kora, Corline J de Ronde, Sandrien Vrieswijk, Eric van der Meijden,
Neurology. Geneticsno. 3 (2024): e200161-e200161
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A rare case of cemento-ossifying fibroma in a 13-year-old boy with Crouzon syndrome with acanthosis nigricans
Yumi Kawaoka, Kazuya Yoshida, Yukitada Hyo,Naoko Yano,Takeshi Yoshida, Koki Moriyoshi
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology (2023)
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