Death review of children receiving medical care at home
Natsume, Jun, Numaguchi, Atsushi, Ohno, Atsuko, Mizuno, Mihoko, Takahashi, Yoshiyuki, Okumura, Akihisa, Yoshikawa, Tetsushi, Saitoh, Shinji, Miura, Kiyokuni, Noda, Masaharu
Published in Pediatric research (01.04.2022)
Published in Pediatric research (01.04.2022)
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Journal Article
Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype
Takenouchi, Toshiki, Miura, Kiyokuni, Uehara, Tomoko, Mizuno, Seiji, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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Journal Article
Shuffling babies and autism spectrum disorder
Okai, Yu, Nakata, Tomohiko, Miura, Kiyokuni, Ohno, Atsuko, Wakako, Rie, Takahashi, Osamu, Maki, Yuki, Tanaka, Masaharu, Sakaguchi, Yoko, Ito, Yuji, Yamamoto, Hiroyuki, Kidokoro, Hiroyuki, Takahashi, Yoshiyuki, Natsume, Jun
Published in Brain & development (Tokyo. 1979) (01.02.2021)
Published in Brain & development (Tokyo. 1979) (01.02.2021)
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Journal Article
Frameshift mutations of the ARX gene in familial Ohtahara syndrome
Kato, Mitushiro, Koyama, Norihisa, Ohta, Masayasu, Miura, Kiyokuni, Hayasaka, Kiyoshi
Published in Epilepsia (Copenhagen) (01.09.2010)
Published in Epilepsia (Copenhagen) (01.09.2010)
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Journal Article
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
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
Published in Brain & development (Tokyo. 1979) (01.05.2015)
Published in Brain & development (Tokyo. 1979) (01.05.2015)
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Journal Article
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations
Yamada, Kenichiro, Miura, Kiyokuni, Hara, Kenju, Suzuki, Motomasa, Nakanishi, Keiko, Kumagai, Toshiyuki, Ishihara, Naoko, Yamada, Yasukazu, Kuwano, Ryozo, Tsuji, Shoji, Wakamatsu, Nobuaki
Published in BMC medical genetics (22.12.2010)
Published in BMC medical genetics (22.12.2010)
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Journal Article
The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations
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
Published in American journal of medical genetics. Part A (01.08.2014)
Published in American journal of medical genetics. Part A (01.08.2014)
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Journal Article
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis
Yamada, Kenichiro, Naiki, Misako, Hoshino, Shin, Kitaura, Yasuyuki, Kondo, Yusuke, Nomura, Noriko, Kimura, Reiko, Fukushi, Daisuke, Yamada, Yasukazu, Shimozawa, Nobuyuki, Yamaguchi, Seiji, Shimomura, Yoshiharu, Miura, Kiyokuni, Wakamatsu, Nobuaki
Published in Molecular genetics and metabolism reports (01.01.2014)
Published in Molecular genetics and metabolism reports (01.01.2014)
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Journal Article
Characteristics of epilepsy occurring in the first four months
Fukasawa, Tatsuya, Suzuki, Motomasa, Kato, Toru, Hayakawa, Fumio, Miura, Kiyokuni, Kidokoro, Hiroyuki, Kubota, Tetsuo, Okumura, Akihisa, Maruyama, Koichi, Hishikawa, Yoko, Itomi, Kazuya, Negoro, Tamiko, Watanabe, Kazuyoshi, Natsume, Jun
Published in Brain & development (Tokyo. 1979) (01.10.2014)
Published in Brain & development (Tokyo. 1979) (01.10.2014)
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Journal Article
Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
Uemura, Naoko, Matsumoto, Akiko, Nakamura, Miho, Watanabe, Kazuyoshi, Negoro, Tamiko, Kumagai, Toshiyuki, Miura, Kiyokuni, Ohki, Takashi, Mizuno, Seiji, Okumura, Akihisa, Aso, Kohzaburo, Hayakawa, Fumio, Kondo, Yoko
Published in Brain & development (Tokyo. 1979) (01.08.2005)
Published in Brain & development (Tokyo. 1979) (01.08.2005)
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Journal Article
Epilepsy in Peroxisomal Diseases
Takahashi, Yukitoshi, Suzuki, Yasuyuki, Kumazaki, Kaori, Tanabe, Yuzo, Akaboshi, Shinjiro, Miura, Kiyokuni, Shimozawa, Nobuyuki, Kondo, Naomi, Nishiguchi, Toshihiro, Terada, Kihei, Orii, Tadao
Published in Epilepsia (Copenhagen) (01.02.1997)
Published in Epilepsia (Copenhagen) (01.02.1997)
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Journal Article
Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion
Ito, Yuji, Natsume, Jun, Kidokoro, Hiroyuki, Ishihara, Naoko, Azuma, Yoshiteru, Tsuji, Takeshi, Okumura, Akihisa, Kubota, Tetsuo, Ando, Naoki, Saitoh, Shinji, Miura, Kiyokuni, Negoro, Tamiko, Watanabe, Kazuyoshi, Kojima, Seiji
Published in Epilepsia (Copenhagen) (01.08.2015)
Published in Epilepsia (Copenhagen) (01.08.2015)
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Journal Article
Reading impairment after neonatal hypoglycemia with parieto-temporo-occipital injury without cortical blindness: A case report
Kurahashi, Naoko, Ogaya, Shunsuke, Maki, Yuki, Nonobe, Norie, Kumai, Sumire, Hosokawa, Yosuke, Ogawa, Chikako, Yamada, Keitaro, Maruyama, Koichi, Miura, Kiyokuni, Nakamura, Miho
Published in World journal of clinical cases (06.06.2023)
Published in World journal of clinical cases (06.06.2023)
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Journal Article
Clinical symptoms of the Rett syndrome patients with MECP2 gene abnormalities
Miura, Kiyokuni, Kumagai, Toshiyuki, Suzuki, Yoshiko, Ohki, Takashi, Matsumoto, Akiko, Miyazaki, Shuji, Hayakawa, Chiemi, Sonta, Shin-ichi, Yamada, Yasukazu, Wakamatsu, Nobuaki
Published in No to hattatsu (01.01.2005)
Published in No to hattatsu (01.01.2005)
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Journal Article
Central nervous system involvements in Duchenne/Becker muscular dystrophy
Kumagai, T, Miura, K, Ohki, T, Matsumoto, A, Miyazaki, S, Nakamura, M, Ochi, N, Takahashi, O
Published in No to hattatsu (01.11.2001)
Published in No to hattatsu (01.11.2001)
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Journal Article
Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features
Yamada, Kenichiro, Yamada, Yasukazu, Nomura, Noriko, Miura, Kiyokuni, Wakako, Rie, Hayakawa, Chiemi, Matsumoto, Akiko, Kumagai, Toshiyuki, Yoshimura, Ikuko, Miyazaki, Shuji, Kato, Kanefusa, Sonta, Shin-ichi, Ono, Hiroshi, Yamanaka, Tsutomu, Nagaya, Masahiro, Wakamatsu, Nobuaki
Published in American journal of human genetics (01.12.2001)
Published in American journal of human genetics (01.12.2001)
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Journal Article