Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
Suzuki, Hisato, Inaba, Mie, Yamada, Mamiko, Uehara, Tomoko, Takenouchi, Toshiki, Mizuno, Seiji, Kosaki, Kenjiro, Doi, Motomichi
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Journal Article
Atypical Sotos syndrome caused by a novel splice site variant
Minatogawa, Mari, Tsuji, Taichi, Inaba, Mie, Kawakami, Noriaki, Mizuno, Seiji, Kosho, Tomoki
Published in Human genome variation (16.11.2022)
Published in Human genome variation (16.11.2022)
Get full text
Journal Article
Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood
Kato, Kohji, Mizuno, Seiji, Inaba, Mie, Fukumura, Shinobu, Kurahashi, Naoko, Maruyama, Koichi, Ieda, Daisuke, Ohashi, Kei, Hori, Ikumi, Negishi, Yutaka, Hattori, Ayako, Saitoh, Shinji
Published in Brain & development (Tokyo. 1979) (01.09.2018)
Published in Brain & development (Tokyo. 1979) (01.09.2018)
Get full text
Journal Article
The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)
Suzuki, Yasuyo, Enokido, Yasushi, Yamada, Kenichiro, Inaba, Mie, Kuwata, Kumiko, Hanada, Naoki, Morishita, Tsuyoshi, Mizuno, Seiji, Wakamatsu, Nobuaki
Published in Oncotarget (11.07.2017)
Published in Oncotarget (11.07.2017)
Get full text
Journal Article
Brain-derived neurotrophic factor-mediated retrograde signaling required for the induction of long-term potentiation at inhibitory synapses of visual cortical pyramidal neurons
Inagaki, Tsuyoshi, Begum, Tahamina, Reza, Faruque, Horibe, Shoko, Inaba, Mie, Yoshimura, Yumiko, Komatsu, Yukio
Published in Neuroscience research (01.06.2008)
Published in Neuroscience research (01.06.2008)
Get full text
Journal Article
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
Nosaki, Yasunobu, Ohyama, Ken, Watanabe, Maki, Yokoi, Takamasa, Kobayashi, Yosuke, Inaba, Mie, Wakamatsu, Nobuaki, Iwai, Katsushige
Published in Epilepsy & behavior reports (01.01.2020)
Published in Epilepsy & behavior reports (01.01.2020)
Get full text
Journal Article
Facilitation of low-frequency stimulation-induced long-term potentiation by endogenous noradrenaline and serotonin in developing rat visual cortex
Inaba, Mie, Maruyama, Takuro, Yoshimura, Yumiko, Hosoi, Hajime, Komatsu, Yukio
Published in Neuroscience research (01.06.2009)
Published in Neuroscience research (01.06.2009)
Get full text
Journal Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
Yamada, Mamiko, Mizuno, Seiji, Inaba, Mie, Uehara, Tomoko, Inagaki, Hidehito, Suzuki, Hisato, Miya, Fuyuki, Takenouchi, Toshiki, Kurahashi, Hiroki, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.08.2024)
Published in American journal of medical genetics. Part A (01.08.2024)
Get full text
Journal Article
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
Fukushi, Daisuke, Yamada, Kenichiro, Suzuki, Kaoru, Inaba, Mie, Nomura, Noriko, Suzuki, Yasuyo, Katoh, Kimiko, Mizuno, Seiji, Wakamatsu, Nobuaki
Published in Gene (20.05.2018)
Published in Gene (20.05.2018)
Get full text
Journal Article
R3HDM1 haploinsufficiency is associated with mild intellectual disability
Fukushi, Daisuke, Inaba, Mie, Katoh, Kimiko, Suzuki, Yasuyo, Enokido, Yasushi, Nomura, Noriko, Tokita, Yoshihito, Hayashi, Shin, Mizuno, Seiji, Yamada, Kenichiro, Wakamatsu, Nobuaki
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
Get full text
Journal Article
Involvement of T-type Ca2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex
Yoshimura, Yumiko, Inaba, Mie, Yamada, Kazumasa, Kurotani, Tohru, Begum, Tahamina, Reza, Faruque, Maruyama, Takuro, Komatsu, Yukio
Published in The European journal of neuroscience (01.08.2008)
Published in The European journal of neuroscience (01.08.2008)
Get full text
Journal Article
Involvement of T‐type Ca 2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex
Yoshimura, Yumiko, Inaba, Mie, Yamada, Kazumasa, Kurotani, Tohru, Begum, Tahamina, Reza, Faruque, Maruyama, Takuro, Komatsu, Yukio
Published in The European journal of neuroscience (01.08.2008)
Published in The European journal of neuroscience (01.08.2008)
Get full text
Journal Article
Involvement of T-type Ca super(2+) channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex
Yoshimura, Yumiko, Inaba, Mie, Yamada, Kazumasa, Kurotani, Tohru, Begum, Tahamina, Reza, Faruque, Maruyama, Takuro, Komatsu, Yukio
Published in The European journal of neuroscience (01.08.2008)
Published in The European journal of neuroscience (01.08.2008)
Get full text
Journal Article
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
Suzuki, Hisato, Inaba, Mie, Yamada, Mamiko, Uehara, Tomoko, Takenouchi, Toshiki, Mizuno, Seiji, Kosaki, Kenjiro, Doi, Motomichi
Published in American journal of medical genetics. Part A (01.04.2021)
Published in American journal of medical genetics. Part A (01.04.2021)
Get full text
Report
Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
Nosaki, Yasunobu, Ohyama, Ken, Watanabe, Maki, Yokoi, Takamasa, Kobayashi, Yosuke, Inaba, Mie, Wakamatsu, Nobuaki, Iwai, Katsushige
Published in Epilepsy & behavior reports (01.01.2020)
Published in Epilepsy & behavior reports (01.01.2020)
Get full text
Report
Mowat-Wilson Syndrome: Growth Charts
Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Veronica Di Pisa, Juliette Dupont Garcia, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Jens Erik Klint Nielsen, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marin Reina Purificacion, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Samantha Schrier Vergano, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Paolo Giorgi Rossi, Garavelli, Livia
Published in Orphanet Journal of Rare Diseases (19.05.2020)
Published in Orphanet Journal of Rare Diseases (19.05.2020)
Get full text
Web Resource
Influence of the definition of water-year period on discharge-duration analysis focused on low flow: In the case of the Tatsunokuchi-yama Experimental Watershed [Okayama, Japan]
Inaba, N.(Mie Univ., Tsu (Japan)), Kondo, K, Numamoto, S, Hayashi, S
Published in Journal of the Japanese Forest Society (2007)
Published in Journal of the Japanese Forest Society (2007)
Get full text
Journal Article