Endosomal Recycling Defects and Neurodevelopmental Disorders von Saitoh, Shinji

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders von Kato, Kohji, Miya, Fuyuki, Oka, Yasuyoshi, Mizuno, Seiji, Saitoh, Shinji

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Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan von Kawaoka, Naomi, Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Saitoh, Shinji

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Evidence of both foetal inflammation and hypoxia–ischaemia is associated with meconium aspiration syndrome von Yokoi, Kyoko, Iwata, Osuke, Kobayashi, Satoru, Kobayashi, Mizuho, Saitoh, Shinji, Goto, Haruo

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A nationwide survey of Schaaf-Yang syndrome in Japan von Negishi, Yutaka, Kurosawa, Kenji, Takano, Kyoko, Matsubara, Keiko, Nishiyama, Takeshi, Saitoh, Shinji

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Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome von Egawa, Kiyoshi, Saitoh, Shinji, Asahina, Naoko, Shiraishi, Hideaki

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Two case reports of extended‐release guanfacine overdose in children von Shimozato, Asuka, Ohashi, Kei, Saitoh, Shinji

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Death review of children receiving medical care at home von Natsume, Jun, Numaguchi, Atsushi, Ohno, Atsuko, Mizuno, Mihoko, Takahashi, Yoshiyuki, Okumura, Akihisa, Yoshikawa, Tetsushi, Saitoh, Shinji, Miura, Kiyokuni, Noda, Masaharu

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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings von Ohashi, Kei, Fukuhara, Satomi, Miyachi, Taishi, Asai, Tomoko, Imaeda, Masayuki, Goto, Masahide, Kurokawa, Yoshie, Anzai, Tatsuya, Tsurusaki, Yoshinori, Miyake, Noriko, Matsumoto, Naomichi, Yamagata, Takanori, Saitoh, Shinji

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Control variables of serum ferritin concentrations in hospitalized newborn infants: an observational study von Hisano, Tadashi, Okada, Junichiro, Tsuda, Kennosuke, Iwata, Sachiko, Saitoh, Shinji, Iwata, Osuke

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing von Togawa, Takao, MD, Sugiura, Tokio, MD, PhD, Ito, Koichi, MD, PhD, Endo, Takeshi, MD, PhD, Aoyama, Kohei, MD, Ohashi, Kei, MD, Negishi, Yutaka, MD, Kudo, Toyoichiro, MD, PhD, Ito, Reiko, MD, PhD, Kikuchi, Atsuo, MD, PhD, Arai-Ichinoi, Natsuko, MD, PhD, Kure, Shigeo, MD, PhD, Saitoh, Shinji, MD, PhD

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MYCN in human development and diseases von Nishio, Yosuke, Kato, Kohji, Oishi, Hisashi, Takahashi, Yoshiyuki, Saitoh, Shinji

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Influence of mothers’ nighttime responses on the sleep–wake rhythm of 1-month-old infants von Kuroda, Momoka, Suetsugu, Yoshiko, Iwata, Sachiko, Kinoshita, Masahiro, Fujita, Fumie, Sato, Yoko, Saitoh, Shinji, Iwata, Osuke, Morokuma, Seiichi

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Admission temperature of very low birth weight infants and outcomes at three years old von Kato, Shin, Iwata, Osuke, Iwata, Sachiko, Yamada, Takaharu, Tsuda, Kennosuke, Tanaka, Taihei, Saitoh, Shinji

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Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation seque... von Hamaguchi, Yo, Mishima, Hiroyuki, Kawai, Tomoko, Saitoh, Shinji, Hata, Kenichiro, Kinoshita, Akira, Yoshiura, Koh-ichiro

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Effects of long working hours and shift work during pregnancy on obstetric and perinatal outcomes: A large prospective cohort study—Japan Environment and Children’s Study von Suzumori, Nobuhiro, Ebara, Takeshi, Matsuki, Taro, Yamada, Yasuyuki, Kato, Sayaka, Omori, Toyonori, Saitoh, Shinji, Kamijima, Michihiro, Sugiura‐Ogasawara, Mayumi

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Radial Glial Fibers Promote Neuronal Migration and Functional Recovery after Neonatal Brain Injury von Jinnou, Hideo, Sawada, Masato, Kawase, Koya, Kaneko, Naoko, Herranz-Pérez, Vicente, Miyamoto, Takuya, Kawaue, Takumi, Miyata, Takaki, Tabata, Yasuhiko, Akaike, Toshihiro, García-Verdugo, José Manuel, Ajioka, Itsuki, Saitoh, Shinji, Sawamoto, Kazunobu

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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease von Nakamura, Yuji, Kato, Kohji, Tsuchida, Naomi, Matsumoto, Naomichi, Takahashi, Yoshiyuki, Saitoh, Shinji

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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases von Kato, Daiki, Mitsuhashi, Satomi, Miya, Fuyuki, Saitoh, Shinji, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Kochi, Yuta

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Airway gas temperature within endotracheal tube can be monitored using rapid response thermometer von Nakane, Shigeharu, Tsuda, Kennosuke, Kinoshita, Masahiro, Kato, Shin, Iwata, Sachiko, Lin, Yung-Chieh, Mizuno, Mihoko, Saitoh, Shinji, Iwata, Osuke

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