Potocki‐Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses
Yaga, Takeshi, Iguchi, Akihiro, Nakayama, Robert, Kosaki, Rika, Ishiguro, Akira
Published in Pediatrics international (01.01.2023)
Published in Pediatrics international (01.01.2023)
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Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
Kubo, Akiharu, Shiohama, Aiko, Sasaki, Takashi, Nakabayashi, Kazuhiko, Kawasaki, Hiroshi, Atsugi, Toru, Sato, Showbu, Shimizu, Atsushi, Mikami, Shuji, Tanizaki, Hideaki, Uchiyama, Masaki, Maeda, Tatsuo, Ito, Taisuke, Sakabe, Jun-ichi, Heike, Toshio, Okuyama, Torayuki, Kosaki, Rika, Kosaki, Kenjiro, Kudoh, Jun, Hata, Kenichiro, Umezawa, Akihiro, Tokura, Yoshiki, Ishiko, Akira, Niizeki, Hironori, Kabashima, Kenji, Mitsuhashi, Yoshihiko, Amagai, Masayuki
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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The safety of pranlukast and montelukast during the first trimester of pregnancy: A prospective, two‐centered cohort study in Japan
Hatakeyama, Shiro, Goto, Mikako, Yamamoto, Ayaka, Ogura, Jiro, Watanabe, Norikazu, Tsutsumi, Seiji, Yakuwa, Naho, Yamane, Ritsuko, Nagase, Satoru, Takahashi, Kunihiko, Kosaki, Rika, Murashima, Atsuko, Yamaguchi, Hiroaki
Published in Congenital anomalies (01.07.2022)
Published in Congenital anomalies (01.07.2022)
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Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations
Suzuki, Hisato, Nozaki, Masatoshi, Yoshihashi, Hiroshi, Imagawa, Kazuo, Kajikawa, Daigo, Yamada, Mamiko, Yamaguchi, Yu, Morisada, Naoya, Eguchi, Mayuko, Ohashi, Shoko, Ninomiya, Shinsuke, Seto, Toshiyuki, Tokutomi, Tomoharu, Hida, Mariko, Toyoshima, Katsuaki, Kondo, Masatoshi, Inui, Ayano, Kurosawa, Kenji, Kosaki, Rika, Ito, Yushi, Okamoto, Nobuhiko, Kosaki, Kenjiro, Takenouchi, Toshiki
Published in The Journal of pediatrics (01.05.2022)
Published in The Journal of pediatrics (01.05.2022)
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Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan
Ohashi, Eri, Hayakawa, Itaru, Murofushi, Yuka, Kawai, Michiko, Suzuki-Muromoto, Sato, Abe, Yuichi, Yoshida, Michiko, Kono, Naoko, Kosaki, Rika, Hoshino, Ai, Mizuguchi, Masashi, Kubota, Masaya
Published in Brain & development (Tokyo. 1979) (01.09.2021)
Published in Brain & development (Tokyo. 1979) (01.09.2021)
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Journal Article
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy
Ishikawa, Takashi, Tamura, Eiichiro, Kasahara, Mureo, Uchida, Hajime, Higuchi, Masataka, Kobayashi, Hisato, Shimizu, Hirotaka, Ogawa, Eiki, Yotani, Nobuyuki, Irie, Rie, Kosaki, Rika, Kosaki, Kenjiro, Uchiyama, Toru, Onodera, Masafumi, Kawai, Toshinao
Published in Journal of clinical immunology (01.07.2021)
Published in Journal of clinical immunology (01.07.2021)
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Journal Article
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Saettini, Francesco, Herriot, Richard, Prada, Elisabetta, Nizon, Mathilde, Zama, Daniele, Marzollo, Antonio, Romaniouk, Igor, Lougaris, Vassilios, Cortesi, Manuela, Morreale, Alessia, Kosaki, Rika, Cardinale, Fabio, Ricci, Silvia, Domínguez-Garrido, Elena, Montin, Davide, Vincent, Marie, Milani, Donatella, Biondi, Andrea, Gervasini, Cristina, Badolato, Raffaele
Published in Journal of clinical immunology (01.08.2020)
Published in Journal of clinical immunology (01.08.2020)
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Journal Article
Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan
Kaneko, Hideo, Takemoto, Minoru, Murakami, Hiroaki, Ihara, Kenji, Kosaki, Rika, Motegi, Sei‐ichiro, Taniguchi, Akira, Matsuo, Muneaki, Yamazaki, Naoya, Nishigori, Chikako, Takita, Junko, Koshizaka, Masaya, Maezawa, Yoshiro, Yokote, Koutaro
Published in Pediatrics international (01.01.2022)
Published in Pediatrics international (01.01.2022)
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Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Yamoto, Kaori, Saitsu, Hirotomo, Nishimura, Gen, Kosaki, Rika, Takayama, Shinichiro, Haga, Nobuhiko, Tonoki, Hidefumi, Okumura, Akihisa, Horii, Emiko, Okamoto, Nobuhiko, Suzumura, Hiroshi, Ikegawa, Shiro, Kato, Fumiko, Fujisawa, Yasuko, Nagata, Eiko, Takada, Shuji, Fukami, Maki, Ogata, Tsutomu
Published in European journal of human genetics : EJHG (01.12.2019)
Published in European journal of human genetics : EJHG (01.12.2019)
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Journal Article
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
Takenouchi, Toshiki, Hida, Mariko, Sakamoto, Yoshiaki, Torii, Chiharu, Kosaki, Rika, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1
Morimoto, Noriko, Mutai, Hideki, Namba, Kazunori, Kaneko, Hiroki, Kosaki, Rika, Matsunaga, Tatsuo
Published in Auris, nasus, larynx (01.04.2018)
Published in Auris, nasus, larynx (01.04.2018)
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Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects
Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Rika, Kurosawa, Kenji, Mizuno, Seiji, Kosaki, Kenjiro
Published in European journal of medical genetics (01.05.2018)
Published in European journal of medical genetics (01.05.2018)
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Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance
Urakawa, Tatsuki, Soejima, Hidenobu, Yamoto, Kaori, Hara-Isono, Kaori, Nakamura, Akie, Kawashima, Sayaka, Narusawa, Hiromune, Kosaki, Rika, Nishimura, Yutaka, Yamazawa, Kazuki, Hattori, Tetsuo, Muramatsu, Yukako, Inoue, Takanobu, Matsubara, Keiko, Fukami, Maki, Saitoh, Shinji, Ogata, Tsutomu, Kagami, Masayo
Published in Clinical epigenetics (05.10.2024)
Published in Clinical epigenetics (05.10.2024)
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Journal Article
A Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites
Fukui, Kana, Amari, Shoichiro, Yotani, Nobuyuki, Kosaki, Rika, Hata, Kenichiro, Kosuga, Motomichi, Sago, Haruhiko, Isayama, Tetsuya, Ito, Yushi
Published in American journal of perinatology reports (01.01.2023)
Published in American journal of perinatology reports (01.01.2023)
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