Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex
Kato, Kohji, Oka, Yasuyoshi, Muramatsu, Hideki, Vasilev, Filipp F, Otomo, Takanobu, Oishi, Hisashi, Kawano, Yoshihiko, Kidokoro, Hiroyuki, Nakazawa, Yuka, Ogi, Tomoo, Takahashi, Yoshiyuki, Saitoh, Shinji
Published in Journal of medical genetics (01.04.2020)
Published in Journal of medical genetics (01.04.2020)
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Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Otsuji, Shiomi, Nishio, Yosuke, Tsujita, Maki, Rio, Marlene, Huber, Céline, Antón-Plágaro, Carlos, Mizuno, Seiji, Kawano, Yoshihiko, Miyatake, Satoko, Simon, Marleen, van Binsbergen, Ellen, van Jaarsveld, Richard H, Matsumoto, Naomichi, Cormier-Daire, Valerie, J.Cullen, Peter, Saitoh, Shinji, Kato, Kohji
Published in Journal of medical genetics (01.04.2023)
Published in Journal of medical genetics (01.04.2023)
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Reactivation of human herpesviruses 6 and 7 in Kawasaki disease
Kawano, Yoshihiko, Kawada, Jun-ichi, Nagai, Noriko, Ito, Yoshinori
Published in Modern rheumatology (04.07.2019)
Published in Modern rheumatology (04.07.2019)
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Pediatric sepsis cases diagnosed with group B streptococcal meningitis using next-generation sequencing: a report of two cases
Horiba, Kazuhiro, Suzuki, Michio, Tetsuka, Nobuyuki, Kawano, Yoshihiko, Yamaguchi, Makoto, Okumura, Toshihiko, Suzuki, Takako, Torii, Yuka, Kawada, Jun-ichi, Morita, Makoto, Hara, Shinya, Ogi, Tomoo, Ito, Yoshinori
Published in BMC infectious diseases (05.06.2021)
Published in BMC infectious diseases (05.06.2021)
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The eldest case of MICPCH with CASK mutation exhibiting gross motor regression
Nishio, Yosuke, Kidokoro, Hiroyuki, Takeo, Toshiki, Narita, Hajime, Sawamura, Fumi, Narita, Kotaro, Kawano, Yoshihiko, Nakata, Tomohiko, Muramatsu, Hideki, Hara, Shinya, Kaname, Tadashi, Natsume, Jun
Published in Brain & development (Tokyo. 1979) (01.03.2021)
Published in Brain & development (Tokyo. 1979) (01.03.2021)
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A case of refractory cytomegalovirus-related thrombocytopenia that achieved complete remission without antiviral therapy
Nishio, Yosuke, Kawano, Yoshihiko, Kawada, Jun-ichi, Ito, Yoshinori, Hara, Shinya
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.12.2018)
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.12.2018)
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Ureteral dilatation detected in magnetic resonance imaging predicts vesicoureteral reflux in children with urinary tract infection
Murakami, Norihiro, Kawada, Jun-Ichi, Watanabe, Azumi, Arakawa, Toshinao, Kano, Takamasa, Suzuki, Takako, Tanaka, Ryo, Kojima, Daiei, Kawano, Yoshihiko, Hoshino, Shin, Muramatsu, Hideki, Takahashi, Yoshiyuki, Sato, Yoshiaki, Koyama, Masashi, Natsume, Jun
Published in PloS one (21.12.2018)
Published in PloS one (21.12.2018)
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Performance of Nanopore and Illumina Metagenomic Sequencing for Pathogen Detection and Transcriptome Analysis in Infantile Central Nervous System Infections
Horiba, Kazuhiro, Torii, Yuka, Aizawa, Yuta, Yamaguchi, Makoto, Haruta, Kazunori, Okumura, Toshihiko, Suzuki, Takako, Kawano, Yoshihiko, Kawada, Jun-ichi, Hara, Shinya, Saitoh, Akihiko, Giske, Christian G, Ogi, Tomoo, Ito, Yoshinori
Published in Open forum infectious diseases (01.10.2022)
Published in Open forum infectious diseases (01.10.2022)
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Quantitative metabolome profiling reveals the involvement of the kynurenine pathway in influenza-associated encephalopathy
Torii, Yuka, Kawano, Yoshihiko, Sato, Hajime, Sasaki, Kazunori, Fujimori, Tamaki, Kawada, Jun-ichi, Takikawa, Osamu, Lim, Chai K., Guillemin, Gilles J., Ohashi, Yoshiaki, Ito, Yoshinori
Published in Metabolomics (01.05.2016)
Published in Metabolomics (01.05.2016)
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Metabolome analysis reveals the association between the kynurenine pathway and human herpesvirus 6 encephalopathy in immunocompetent children
Torii, Yuka, Kawano, Yoshihiko, Sato, Hajime, Fujimori, Tamaki, Sasaki, Kazunori, Kawada, Jun-ichi, Takikawa, Osamu, Lim, Chai K., Guillemin, Gilles J., Ohashi, Yoshiaki, Ito, Yoshinori
Published in Metabolomics (01.11.2017)
Published in Metabolomics (01.11.2017)
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Plasma Viral MicroRNA Profiles Reveal Potential Biomarkers for Chronic Active Epstein―Barr Virus Infection
KAWANO, Yoshihiko, IWATA, Seiko, KAWADA, Jun-Ichi, GOTOH, Kensei, SUZUKI, Michio, TORII, Yuka, KOJIMA, Seiji, KIMURA, Hiroshi, ITO, Yoshinori
Published in The Journal of infectious diseases (01.09.2013)
Published in The Journal of infectious diseases (01.09.2013)
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Hyperferritinemia in neonatal and infantile human parechovirus-3 infection in comparison with other infectious diseases
Hara, Shinya, Kawada, Jun-ichi, Kawano, Yoshihiko, Yamashita, Teruo, Minagawa, Hiroko, Okumura, Naoya, Ito, Yoshinori
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.01.2014)
Published in Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy (01.01.2014)
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Serum microRNAs as Potential Biomarkers of Juvenile Idiopathic Arthritis
Kamiya, Yasuko, Kawada, Jun-ichi, Kawano, Yoshihiko, Torii, Yuka, Kawabe, Shinji, Iwata, Naomi, Ito, Yoshinori
Published in Clinical rheumatology (07.04.2015)
Published in Clinical rheumatology (07.04.2015)
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Growth of IrOx--SnOx Films Deposited by Reactive Sputtering
Harada, Shun, Yoshino, Kenji, Fukudome, Syuji, Kawano, Yoshihiko, Sei, Fumihiro
Published in Jpn J Appl Phys (01.05.2011)
Published in Jpn J Appl Phys (01.05.2011)
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Effect of Nucleation Layer of Photocatalytic TiO2 Thin Film Prepared by Two-Step Deposition Using Radical-Assisted Sputtering
Noguchi, Daisuke, Higashimaru, Yukie, Eto, Tomohiro, Kodama, Kazuya, Fukudome, Shoji, Kawano, Yoshihiko, Sei, Fumihiro, Siono, Ichiro
Published in Jpn J Appl Phys (01.04.2012)
Published in Jpn J Appl Phys (01.04.2012)
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Technique for High-Rate, Low-Temperature Deposition of TiO2 Photocatalytic Thin Film Using Radical-Assisted Sputtering
Noguchi, Daisuke, Eto, Tomohiro, Kodama, Kazuya, Higashimaru, Yukie, Fukudome, Shoji, Kawano, Yoshihiko, Sei, Fumihiro, Siono, Ichiro
Published in Jpn J Appl Phys (01.01.2011)
Published in Jpn J Appl Phys (01.01.2011)
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Formation of WO3 Reduction Coloring Thin Film Using a Combination Sputtering Method Featuring Radio-Frequency Oxygen Plasma Irradiation
NOGUCHI, Daisuke, FUKUDOME, Shoji, SHIMONIIHARA, Megumi, KAWANO, Yoshihiko, SEI, Fumihiro
Published in Journal of the Vacuum Society of Japan (2011)
Published in Journal of the Vacuum Society of Japan (2011)
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Preparation of Ta sub(2)O sub(5) Solid Electrolyte Thin Film by Radical Assisted Sputtering Method
Nishida, Yuko, Sei, Humihiro, Kawano, Yoshihiko, Hukudome, Syoji, Sai, Kyokuyo, Noguchi, Daisuke
Published in Shinkū (05.11.2013)
Published in Shinkū (05.11.2013)
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