A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency
Dateki, Sumito, Watanabe, Satoshi, Mishima, Hiroyuki, Shirakawa, Toshihiko, Morikawa, Minoru, Kinoshita, Eiichi, Yoshiura, Koh-Ichiro, Moriuchi, Hiroyuki
Published in Journal of human genetics (01.04.2019)
Published in Journal of human genetics (01.04.2019)
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Journal Article
Three cases of xanthinuria identified by gas chromatography/mass spectrometry‐based urine metabolomics
Kuhara, Tomiko, Tetsuo, Masahiro, Ohse, Morimasa, Shirakawa, Toshihiko, Nakashima, Yumiko, Yoshiura, Koh‐ichiro, Tanaka, Nagaaki, Taya, Tadashi
Published in IJU case reports (01.11.2023)
Published in IJU case reports (01.11.2023)
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Journal Article
Proteinuria and Renal Dysfunction Due to Extremely Low Birth Weight in a Patient with Silver-Russell Syndrome
IWATA, MAYU, URAMATSU, TADASHI, TORIGOE, KENTA, YAMASHITA, AYUKO, OTA, YUKI, MUTA, KUMIKO, KITAMURA, MINEAKI, SHIRAKAWA, TOSHIHIKO, KANG, DEDONG, HONDA, KAZUHO, MOCHIZUKI, YASUSHI, SAKAI, HIDEKI, NISHINO, TOMOYA
Published in Kurume medical journal (30.06.2021)
Published in Kurume medical journal (30.06.2021)
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Journal Article
Toxic Shock Syndrome Toxin-1-producing Staphylococcus aureus Bacteremia and Exanthematous and Purpuric Disease with Leukocytoclastic Vasculitis in an Infant
Shirakawa, Toshihiko, Nakashima, Yumiko, Haraguchi, Kohei, Sato, Tatsuharu, Okada, Masahiko, Morinaga, Yoshitomo, Yanagihara, Katsunori, Moriuchi, Hiroyuki
Published in Acta Medica Nagasakiensia (01.10.2018)
Published in Acta Medica Nagasakiensia (01.10.2018)
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Journal Article
Lack of an association between E-selectin gene polymorphisms and risk of Kawasaki disease
Shirakawa, Toshihiko, Ikeda, Kazuyuki, Nishimura, Shinji, Kuniba, Hideo, Nakashima, Kazuhisa, Motomura, Hideki, Mizuno, Yumi, Zaitsu, Masafumi, Nakazato, Mio, Maeda, Takahiro, Hamasaki, Yuhei, Hara, Toshiro, Moriuchi, Hiroyuki
Published in Pediatrics international (01.08.2012)
Published in Pediatrics international (01.08.2012)
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Journal Article
Renal tubular dysgenesis complicated with severe cranium hypoplasia
Shirakawa, Toshihiko, Kondoh, Tatsuro, Takahashi, Ritsuko, Nakayama, Masahiro, Kusumoto, Takashi, Matsudaira, Munenori, Nakashima, Yumiko, Kinoshita, Eiichi, Miyamoto, Masashi, Masuzaki, Hideaki, Uetani, Masataka, Nazneen, Arifa, Taguchi, Takashi, Moriuchi, Hiroyuki
Published in Pediatrics international (01.02.2004)
Published in Pediatrics international (01.02.2004)
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Journal Article
Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1
Okano, Tsubasa, Imai, Kohsuke, Tsujita, Yuki, Mitsuiki, Noriko, Yoshida, Kenichi, Kamae, Chikako, Honma, Kenichi, Mitsui-Sekinaka, Kanako, Sekinaka, Yujin, Kato, Tamaki, Hanabusa, Katsuyuki, Endo, Eri, Takashima, Takehiro, Hiroki, Haruka, Yeh, Tzu-Wen, Tanaka, Keisuke, Nagahori, Masakazu, Tsuge, Ikuya, Bando, Yuki, Iwasaki, Fuminori, Shikama, Yoshiaki, Inoue, Masami, Kimoto, Tomiko, Moriguchi, Naohiko, Yuza, Yuki, Kaneko, Takashi, Suzuki, Kyoko, Matsubara, Tomoyo, Maruo, Yoshihiro, Kunitsu, Tomoaki, Waragai, Tomoko, Sano, Hideki, Hashimoto, Yuko, Tasaki, Kazuhiro, Suzuki, Osamu, Shirakawa, Toshihiko, Kato, Motohiro, Uchiyama, Toru, Ishimura, Masataka, Tauchi, Tetsuzo, Yagasaki, Hiroshi, Jou, Shiann-Tarng, Yu, Hsin-Hui, Kanegane, Hirokazu, Kracker, Sven, Durandy, Anne, Kojima, Daiei, Muramatsu, Hideki, Wada, Taizo, Inoue, Yuzaburo, Takada, Hidetoshi, Kojima, Seiji, Ogawa, Seishi, Ohara, Osamu, Nonoyama, Shigeaki, Morio, Tomohiro
Published in Journal of allergy and clinical immunology (01.01.2019)
Published in Journal of allergy and clinical immunology (01.01.2019)
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Journal Article
Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions
Harrer, Philip, Schalk, Audrey, Shimura, Masaru, Baer, Sarah, Calmels, Nadège, Spitz, Marie Aude, Warde, Marie‐Thérèse Abi, Schaefer, Elise, Kittke, Volker M.Sc, Dincer, Yasemin, Wagner, Matias, Dzinovic, Ivana, Berutti, Riccardo, Sato, Tatsuharu, Shirakawa, Toshihiko, Okazaki, Yasushi, Murayama, Kei, Oexle, Konrad, Prokisch, Holger, Mall, Volker, Melčák, Ivo, Winkelmann, Juliane, Zech, Michael
Published in Annals of neurology (01.02.2023)
Published in Annals of neurology (01.02.2023)
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Journal Article
MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J Austin, Akay, Gulsen, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura, van Eerde, Albertien M, Wagner, Timo, Bergmann, Carsten, Buchan, Jillian, Wegner, Tara, Posey, Jennifer, Lupski, James R, Petit, Florence, Mccarthy, Andrew A, Pazour, Gregory J, Lo, Cecilia W, Popp, Bernt, Halbritter, Jan
Published in Nephrology, dialysis, transplantation (03.05.2022)
Published in Nephrology, dialysis, transplantation (03.05.2022)
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Journal Article
Proteinuria and Renal Dysfunction Due to Extremely Low Birth Weight in a Patient with Silver-Russell Syndrome
IWATA, MAYU, URAMATSU, TADASHI, TORIGOE, KENTA, YAMASHITA, AYUKO, OTA, YUKI, MUTA, KUMIKO, KITAMURA, MINEAKI, SHIRAKAWA, TOSHIHIKO, KANG, DEDONG, HONDA, KAZUHO, MOCHIZUKI, YASUSHI, SAKAI, HIDEKI, NISHINO, TOMOYA
Published in The Kurume Medical Journal (26.05.2023)
Published in The Kurume Medical Journal (26.05.2023)
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Journal Article
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J. Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R., van Eerde, Albertien M., Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A., Paolucci, Sarah, Buchan, Jillian, Gabriel, George C., Posey, Jennifer E., Lupski, James R., Petit, Florence, McCarthy, Andrew A., Pazour, Gregory J., Lo, Cecilia W., Popp, Bernt, Halbritter, Jan
Published in Kidney international (01.05.2022)
Published in Kidney international (01.05.2022)
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Journal Article
A neonatal case of Japanese spotted fever
Hamaguchi, Yo, Shirakawa, Toshihiko, Kuwatsuka, Yutaka, Ando, Shuji
Published in The Pediatric infectious disease journal (01.11.2013)
Published in The Pediatric infectious disease journal (01.11.2013)
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Journal Article
A nationwide survey of common viral infections in childhood among patients with primary immunodeficiency diseases
Nanishi, Etsuro, Hoshina, Takayuki, Takada, Hidetoshi, Ishimura, Masataka, Nishio, Hisanori, Uehara, Takahiro, Mizuno, Yumi, Hasegawa, Shunji, Ohga, Shouichi, Nagao, Masayoshi, Igarashi, Maiko, Yajima, Shuhei, Kusumoto, Yoshio, Onishi, Noriko, Sasahara, Yoji, Yasumi, Takahiro, Heike, Toshio, Hara, Toshiro
Published in The Journal of infection (01.10.2016)
Published in The Journal of infection (01.10.2016)
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Journal Article
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure
Shirakawa, Toshihiko, Nakashima, Yumiko, Watanabe, Satoshi, Harada, Sadatomo, Kinoshita, Mariko, Kihara, Toshiharu, Hamasaki, Yuko, Shishido, Seiichiro, Yoshiura, Koh-ichiro, Moriuchi, Hiroyuki, Dateki, Sumito
Published in CEN case reports (01.05.2018)
Published in CEN case reports (01.05.2018)
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Journal Article
Three cases of xanthinuria identified by gas chromatography/mass spectrometry-based urine metabolomics
Kuhara, Tomiko, Tetsuo, Masahiro, Ohse, Morimasa, Shirakawa, Toshihiko, Nakashima, Yumiko, Yoshiura, Koh-Ichiro, Tanaka, Nagaaki, Taya, Tadashi
Published in IJU case reports (01.11.2023)
Published in IJU case reports (01.11.2023)
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Report
AUTOMATIC LOCALIZED SUBSTRATE ANALYSIS DEVICE AND ANALYSIS METHOD
Kawabata Katsuhiko, Ichinose Tatsuya, Imai Toshihiko Shirakawa R&D Center
Year of Publication 08.06.2017
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Year of Publication 08.06.2017
Patent