Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy
Tanaka, Ryosuke, Takahashi, Satoru, Kuroda, Mami, Takeguchi, Ryo, Suzuki, Nao, Makita, Yoshio, Narumi‐Kishimoto, Yoko, Kaname, Tadashi
Published in Epileptic disorders (01.08.2020)
Published in Epileptic disorders (01.08.2020)
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A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
Ueda, Yuki, Suganuma, Takashi, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Sato, Tomonobu
Published in Brain & development (Tokyo. 1979) (01.01.2021)
Published in Brain & development (Tokyo. 1979) (01.01.2021)
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Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis
Nishida, Tomoya, Nakano, Kazuhisa, Inoue, Yoshino, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Akashi, Koichi, Tanaka, Yoshiya
Published in Internal Medicine (01.04.2021)
Published in Internal Medicine (01.04.2021)
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A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Hori, Asuka, Migita, Ohsuke, Kawaguchi-Kawata, Rika, Narumi-Kishimoto, Yoko, Takada, Fumio, Hata, Kenichiro
Published in Human genome variation (29.10.2021)
Published in Human genome variation (29.10.2021)
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Comprehensive analysis of syndromic hearing loss patients in Japan
Ideura, Michie, Nishio, Shin-Ya, Moteki, Hideaki, Takumi, Yutaka, Miyagawa, Maiko, Sato, Teruyuki, Kobayashi, Yumiko, Ohyama, Kenji, Oda, Kiyoshi, Matsui, Takamichi, Ito, Tsukasa, Suzumura, Hiroshi, Nagai, Kyoko, Izumi, Shuji, Nishiyama, Nobuhiro, Komori, Manabu, Kumakawa, Kozo, Takeda, Hidehiko, Kishimoto, Yoko, Iwasaki, Satoshi, Furutate, Sakiko, Ishikawa, Kotaro, Fujioka, Masato, Nakanishi, Hiroshi, Nakayama, Jun, Horie, Rie, Ohta, Yumi, Naito, Yasushi, Kakudo, Mariko, Sakaguchi, Hirofumi, Kataoka, Yuko, Sugahara, Kazuma, Hato, Naohito, Nakagawa, Takashi, Tsuchihashi, Nana, Kanda, Yukihiko, Kihara, Chiharu, Tono, Tetsuya, Miyanohara, Ikuyo, Ganaha, Akira, Usami, Shin-Ichi
Published in Scientific reports (19.08.2019)
Published in Scientific reports (19.08.2019)
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Normal early development in siblings with novel compound heterozygous variants in ASPM
Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki
Published in Human genome variation (2019)
Published in Human genome variation (2019)
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A Case of Stimulator of Interferon Genes-associated Vasculopathy with an Onset in Infancy Diagnosed after the Development of Atypical Pulmonary Lesions During Treatment as Juvenile Idiopathic Arthritis
Nishida, Tomoya, Nakano, Kazuhisa, Inoue, Yoshino, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Akashi, Koichi, Tanaka, Yoshiya
Published in Internal Medicine (2021)
Published in Internal Medicine (2021)
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Social support and suicidal ideation in Japan: are home visits by commissioned welfare volunteers associated with a lower risk of suicidal ideation among elderly people in the community?
Noguchi, Masayuki, Iwase, Toshihide, Suzuki, Etsuji, Kishimoto, Yoko, Takao, Soshi
Published in Social Psychiatry and Psychiatric Epidemiology (01.04.2014)
Published in Social Psychiatry and Psychiatric Epidemiology (01.04.2014)
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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
Kato, Kohji, Miya, Fuyuki, Hamada, Nanako, Negishi, Yutaka, Narumi-Kishimoto, Yoko, Ozawa, Hiroshi, Ito, Hidenori, Hori, Ikumi, Hattori, Ayako, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Kanemura, Yonehiro, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Nagata, Koh-Ichi, Saitoh, Shinji
Published in Journal of medical genetics (01.06.2019)
Published in Journal of medical genetics (01.06.2019)
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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome
Narumi-Kishimoto, Yoko, Araki, Naomi, Migita, Ohsuke, Kawai, Tomoko, Okamura, Kohji, Nakabayashi, Kazuhiko, Kaname, Tadashi, Ozawa, Yuri, Ozawa, Hiroshi, Takada, Fumio, Hata, Kenichiro
Published in European journal of medical genetics (01.09.2019)
Published in European journal of medical genetics (01.09.2019)
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Erratum to: Social support and suicidal ideation in Japan: are home visits by commissioned welfare volunteers associated with a lower risk of suicidal ideation among elderly people in the community?
Noguchi, Masayuki, Iwase, Toshihide, Suzuki, Etsuji, Kishimoto, Yoko, Takao, Soshi
Published in Social Psychiatry and Psychiatric Epidemiology (01.03.2015)
Published in Social Psychiatry and Psychiatric Epidemiology (01.03.2015)
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study
Mirzaa, Ghayda M, Dr, Conti, Valerio, PhD, Timms, Andrew E, PhD, Smyser, Christopher D, MD, Ahmed, Sarah, MD, Carter, Melissa, MD, Barnett, Sarah, MS, Hufnagel, Robert B, MD, Goldstein, Amy, MD, Narumi-Kishimoto, Yoko, MD, Olds, Carissa, MSc, Collins, Sarah, MS, Johnston, Kathreen, MD, Deleuze, Jean-François, PhD, Nitschké, Patrick, PhD, Friend, Kathryn, PhD, Harris, Catharine, MD, Goetsch, Allison, MS, Martin, Beth, BS, Boyle, Evan August, BS, Parrini, Elena, MD, Mei, Davide, MSLT, Tattini, Lorenzo, PhD, Slavotinek, Anne, Prof, Blair, Ed, MRCP, Barnett, Christopher, MBBS, Shendure, Jay, Prof, Chelly, Jamel, Prof, Dobyns, William B, Prof, Guerrini, Renzo, Prof
Published in Lancet neurology (01.12.2015)
Published in Lancet neurology (01.12.2015)
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A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly
Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Published in BMC medical genetics (13.01.2017)
Published in BMC medical genetics (13.01.2017)
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Normal early development in siblings with novel compound heterozygous variants in ASPM
Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki
Published in Human genome variation (06.01.2020)
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Published in Human genome variation (06.01.2020)
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AQUEOUS SUSPENSION EYEDROPS AND PROCESS FOR PRODUCING THE SAME
OKAMOTO, TOMOYUKI, KASAMA, TOSHIO, SAITOH, KOUICHI, TOKUYAMA, SATORU, HANAZOME, ISAO, KISHIMOTO, YOKO, OGURO, SUSUMU
Year of Publication 22.08.2002
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Year of Publication 22.08.2002
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