Epidemiological investigation of spinal muscular atrophy in Japan von Ito, Mayuri, Yamauchi, Akemi, Urano, Mari, Kato, Tamaki, Matsuo, Mari, Nakashima, Kenji, Saito, Kayoko

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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium von Kato, Tamaki, Urano, Mari, Matsuo, Mari, Saito, Kayoko

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Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals von Ishizaki, Yuko, Matsuo, Mari, Saito, Kayoko, Fujihira, Yoko

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Diagnosis and Genetic Counseling for Mitochondrial Disease at the Institute of Medical Genetics, Tokyo Women's Medical University von MATSUO, Mari, IWASAKI, Naoko, SAITO, Kayoko

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Long‐term natural history of an adult patient with distal 22q11.2 deletion from low copy repeat‐D to E von Matsuo, Mari, Yamamoto, Toshiyuki, Saito, Kayoko

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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures von Matsuo, Mari, Yamauchi, Akemi, Ito, Yasushi, Sakauchi, Masako, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Saito, Kayoko

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Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6 von Yamamoto, Toshiyuki, Shimojima, Keiko, Nishizawa, Tsutomu, Matsuo, Mari, Ito, Masahiro, Imai, Katsumi

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Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications von Shimada, Shino, Shimojima, Keiko, Okamoto, Nobuhiko, Sangu, Noriko, Hirasawa, Kyoko, Matsuo, Mari, Ikeuchi, Mayo, Shimakawa, Shuichi, Shimizu, Kenji, Mizuno, Seiji, Kubota, Masaya, Adachi, Masao, Saito, Yoshiaki, Tomiwa, Kiyotaka, Haginoya, Kazuhiro, Numabe, Hironao, Kako, Yuko, Hayashi, Ai, Sakamoto, Haruko, Hiraki, Yoko, Minami, Koichi, Takemoto, Kiyoshi, Watanabe, Kyoko, Miura, Kiyokuni, Chiyonobu, Tomohiro, Kumada, Tomohiro, Imai, Katsumi, Maegaki, Yoshihiro, Nagata, Satoru, Kosaki, Kenjiro, Izumi, Tatsuro, Nagai, Toshiro, Yamamoto, Toshiyuki

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Effect of dietary fatty acid and micronutrient intake/energy ratio on serum diamine oxidase activity in healthy women von Miyoshi, Makoto, M.T., Ph.D, Ueno, Manami, R.D, Matsuo, Mari, R.D, Hamada, Yasuhiro, M.D., Ph.D, Takahashi, Michiko, M.D., Ph.D, Yamamoto, Masashi, M.D., Ph.D, Yamamoto, Ikuko, R.D., M.S, Mikajiri, Reiko, R.D., M.S, Tabuchi, Satoko, R.D., M.S, Wakida, Kumiko, R.D, Yamanishi, Misa, R.D, Hirai, Midori, P.C., Ph.D, Usami, Makoto, M.D., Ph.D

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The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations von Yamada, Yasukazu, Nomura, Noriko, Yamada, Kenichiro, Matsuo, Mari, Suzuki, Yuka, Sameshima, Kiyoko, Kimura, Reiko, Yamamoto, Yuto, Fukushi, Daisuke, Fukuhara, Yayoi, Ishihara, Naoko, Nishi, Eriko, Imataka, George, Suzumura, Hiroshi, Hamano, Shin-Ichiro, Shimizu, Kenji, Iwakoshi, Mie, Ohama, Kazunori, Ohta, Akira, Wakamoto, Hiroyuki, Kajita, Mitsuharu, Miura, Kiyokuni, Yokochi, Kenji, Kosaki, Kenjiro, Kuroda, Tatsuo, Kosaki, Rika, Hiraki, Yoko, Saito, Kayoko, Mizuno, Seiji, Kurosawa, Kenji, Okamoto, Nobuhiko, Wakamatsu, Nobuaki

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Genomic copy number variations at 17p13.3 and epileptogenesis von Shimojima, Keiko, Sugiura, Chitose, Takahashi, Hiroka, Ikegami, Mariko, Takahashi, Yukitoshi, Ohno, Kousaku, Matsuo, Mari, Saito, Kayoko, Yamamoto, Toshiyuki

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Latent tuberculosis infection and tuberculosis in children and adolescents von Ishikawa, Cassia Satsuki, Matsuo, Olivia Mari, Sarno, Flavio

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In‐depth cardiovascular and pulmonary assessments in children with multisystem inflammatory syndrome after SARS‐CoV‐2 infection: A case series study von Astley, Camilla, Badue Pereira, Maria Fernanda, Lima, Marcos Santos, Buchpiguel, Carlos Alberto, Carneiro, Camila G., Sapienza, Marcelo Tatit, Leal, Gabriela Nunes, Prado, Danilo Marcelo Leite, Peçanha, Tiago, Sieczkowska, Sofia Mendes, Matsuo, Olivia Mari, Lindoso, Livia, Marques, Heloisa Helena, Silva, Clovis Artur, Gualano, Bruno

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Mowat-Wilson Syndrome Affecting 3 Siblings von Ohtsuka, Motoko, Oguni, Hirokazu, Ito, Yasushi, Nakayama, Tomohiro, Matsuo, Mari, Osawa, Makiko, Saito, Kayoko, Yamada, Yasukazu, Wakamatsu, Nobuaki

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A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1 von Iwasaki, Naoko, Fukawa, Kaori, Matsuo, Mari, Urano, Mari, Watanabe, Motoko, Ono, Yuko, Tanabe, Katsuya, Tanizawa, Yukio, Ogata, Makiko, Ide, Risa, Takizawa, Miho, Nagata, Satoru, Osawa, Makiko, Uchigata, Yasuko, Saito, Kayoko

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Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan von Ito, Yasushi, Gertsen, Elena, Oguni, Hirokazu, Nakayama, Tomohiro, Matsuo, Mari, Funatsuka, Makoto, Voit, Thomas, Klepper, Jörg, Osawa, Makiko

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Change in Sleep and Depressive Symptoms in The Perinatal Periode: A Case Series of Four Japanese Mothers von Kumiko Kido, Mari Matsuo, Yuko Uemura, Atsuko Shiota, Satoshi Tada

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An Overview of the Clinical Characteristics of Japanese Patients with Spinal Muscular Atrophy: Data from SMART Consortium von Kato, Tamaki, Urano, Mari, Matsuo, Mari, Saito, Kayoko

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骨転移巣から診断したBRAF-V600E変異陽性異時多発肺癌の1例 von 松本, 卓子, 松尾, 真理, 長嶋, 洋治, 久保, 祐二, 齋藤, 加代子, 神崎, 正人

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MLL2 and KDM6A mutations in patients with Kabuki syndrome von Miyake, Noriko, Koshimizu, Eriko, Okamoto, Nobuhiko, Mizuno, Seiji, Ogata, Tsutomu, Nagai, Toshiro, Kosho, Tomoki, Ohashi, Hirofumi, Kato, Mitsuhiro, Sasaki, Goro, Mabe, Hiroyo, Watanabe, Yoriko, Yoshino, Makoto, Matsuishi, Toyojiro, Takanashi, Jun-Ichi, Shotelersuk, Vorasuk, Tekin, Mustafa, Ochi, Nobuhiko, Kubota, Masaya, Ito, Naoko, Ihara, Kenji, Hara, Toshiro, Tonoki, Hidefumi, Ohta, Tohru, Saito, Kayoko, Matsuo, Mari, Urano, Mari, Enokizono, Takashi, Sato, Astushi, Tanaka, Hiroyuki, Ogawa, Atsushi, Fujita, Takako, Hiraki, Yoko, Kitanaka, Sachiko, Matsubara, Yoichi, Makita, Toshio, Taguri, Masataka, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Yoshiura, Ko-Ichiro, Matsumoto, Naomichi, Niikawa, Norio

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