Not logged in.png)
Share.png)
SavePierson syndrome with numerous dilated tubules masquerading as autosomal recessive polycystic kidney disease: a case report
Yamamura-Miyazaki, Natsumi; Michigami, Toshimi; Okamoto, Nobuhiko; Iida, Takaya; Yanagi, Kumiko; Kaname, Tadashi; Fukuda, Sayaka; Baba, Minato; Fujiwara, Kaori; Kubota, Takuo Share Save Share Save Share Save Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosisGoto, Yusuke; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Ogata, Tsutomu; Kurosawa, Kenji; Ohashi, Hirofumi; Matsubara, Yoichi; Abe, Taiki; Kikuchi, Atsuo; Aoki, Yoko Share Save Mosaic deletions detected by genome sequencing in two familiesTsuchida, Naomi; Uchiyama, Yuri; Hamanaka, Kohei; Okamoto, Nobuhiko; Fujimoto, Ayataka; Enoki, Hideo; Koshimizu, Eriko; Fujita, Atsushi; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi Share Save Share Save Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complicationsMiyake, Noriko; Shiga, Kentaro; Hasegawa, Yuya; Iwabuchi, Chisato; Shiroshita, Kohei; Kobayashi, Hiroshi; Takubo, Keiyo; Velilla, Fabien; Maeno, Akiteru; Kawasaki, Toshihiro; Imai, Yukiko; Sakai, Noriyoshi; Hirose, Tomonori; Fujita, Atsushi; Takahashi, Hidehisa; Okamoto, Nobuhiko; Enokizono, Mikako; Iwasaki, Shiho; Ito, Shuichi; Matsumoto, Naomichi Share Save Clinical and biomarker data from a phase 1/2 trial of ifinatamab deruxtecan (I-DXd; DS-7300) in advanced solid tumorsDoi, T.; Patel, M. R.; Koyama, T.; Falchook, G. S.; Friedman, C.; Piha-Paul, S. A.; Gutierrez, M.; Awad, M.; Mattour, A.; Satoh, T.; Takahashi, S.; Tsunoda, T.; Kadowaki, S.; Watanabe, Y.; Okamoto, N.; Goto, H.; Yoshizuka, N.; Qian, M.; Qian, X.; Johnson, M. Share Save Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortalityUnuma, Kana; Tomomasa, Dan; Noma, Kosuke; Yamamoto, Kouhei; Matsuyama, Taka-aki; Makino, Yohsuke; Hijikata, Atsushi; Wen, Shuheng; Ogata, Tsutomu; Okamoto, Nobuhiko; Okada, Satoshi; Ohashi, Kenichi; Uemura, Koichi; Kanegane, Hirokazu Share Save Molecular diagnosis of 405 individuals with autism spectrum disorderMiyake, Noriko; Tsurusaki, Yoshinori; Fukai, Ryoko; Kushima, Itaru; Okamoto, Nobuhiko; Ohashi, Kei; Nakamura, Kazuhiko; Hashimoto, Ryota; Hiraki, Yoko; Son, Shuraku; Kato, Mitsuhiro; Sakai, Yasunari; Osaka, Hitoshi; Deguchi, Kimiko; Matsuishi, Toyojiro; Takeshita, Saoko; Fattal-Valevski, Aviva; Ekhilevitch, Nina; Tohyama, Jun; Yap, Patrick; Keng, Wee Teik; Kobayashi, Hiroshi; Takubo, Keiyo; Okada, Takashi; Saitoh, Shinji; Yasuda, Yuka; Murai, Toshiya; Nakamura, Kazuyuki; Ohga, Shouichi; Matsumoto, Ayumi; Inoue, Ken; Saikusa, Tomoko; Hershkovitz, Tova; Kobayashi, Yu; Morikawa, Mako; Ito, Aiko; Hara, Toshiro; Uno, Yota; Seiwa, Chizuru; Ishizuka, Kanako; Shirahata, Emi; Fujita, Atsushi; Koshimizu, Eriko; Miyatake, Satoko; Takata, Atsushi; Mizuguchi, Takeshi; Ozaki, Norio; Matsumoto, Naomichi Share Save A novel NONO variant that causes developmental delay and cardiac phenotypes ( jan, 2023, 10.1038/s41598-023-27770-6,)Itai, Toshiyuki; Sugie, Atsushi; Nitta, Yohei; Maki, Ryuto; Suzuki, Takashi; Shinkai, Yoichi; Watanabe, Yoshihiro; Nakano, Yusuke; Ichikawa, Kazushi; Okamoto, Nobuhiko; Utsuno, Yasuhiro; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Uchiyama, Yuri; Tsuchida, Naomi; Miyake, Noriko; Misawa, Kazuharu; Mizuguchi, Takeshi; Miyatake, Satoko; Matsumoto, Naomichi Share Save Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophySakamoto, Masamune; Iwama, Kazuhiro; Sasaki, Masayuki; Ishiyama, Akihiko; Komaki, Hirofumi; Saito, Takashi; Takeshita, Eri; Shimizu-Motohashi, Yuko; Haginoya, Kazuhiro; Kobayashi, Tomoko; Goto, Tomohide; Tsuyusaki, Yu; Iai, Mizue; Kurosawa, Kenji; Osaka, Hitoshi; Tohyama, Jun; Kobayashi, Yu; Okamoto, Nobuhiko; Suzuki, Yume; Kumada, Satoko; Inoue, Kenji; Mashimo, Hideaki; Arisaka, Atsuko; Kuki, Ichiro; Saijo, Harumi; Yokochi, Kenji; Kato, Mitsuhiro; Inaba, Yuji; Gomi, Yuko; Saitoh, Shinji; Shirai, Kentaro; Morimoto, Masafumi; Izumi, Yuishin; Watanabe, Yoriko; Nagamitsu, Shin-ichiro; Sakai, Yasunari; Fukumura, Shinobu; Muramatsu, Kazuhiro; Ogata, Tomomi; Yamada, Keitaro; Ishigaki, Keiko; Hirasawa, Kyoko; Shimoda, Konomi; Akasaka, Manami; Kohashi, Kosuke; Sakakibara, Takafumi; Ikuno, Masashi; Sugino, Noriko; Yonekawa, Takahiro; Gursoy, Semra; Cinleti, Tayfun; Kim, Chong Ae; Teik, Keng Wee; Yan, Chan Mei; Haniffa, Muzhirah; Ohba, Chihiro; Ito, Shuuichi; Saitsu, Hirotomo; Saida, Ken; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohei; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Miyake, Noriko; Matsumoto, Naomichi Share Save Phenotypic and mutational spectrum of ROR2-related Robinow syndromeLima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio; Brunoni, Decio; Cano, Talyta M.; Jorge, Alexander A. L.; Kim, Chong A.; Honjo, Rachel; Bertola, Debora R.; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gulay C.; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban-Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P.; Pogue, Robert; Pereira, Rinaldo W.; Otto, Paulo A.; Gibbs, Richard A.; Ali, Bassam R.; Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R.; Vianna-Morgante, Angela M.; Carvalho, Claudia M. B.; Mazzeu, Juliana F. Share Save Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number VariationsSuzuki, 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 Share Save Share Save Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeNagai, Koki; Niihori, Tetsuya; Okamoto, Nobuhiko; Kondo, Akane; Suga, Kenichi; Ohhira, Tomoko; Hayabuchi, Yasunobu; Homma, Yukako; Nakagawa, Ryuji; Ifuku, Toshinobu; Abe, Taiki; Mizuguchi, Takeshi; Matsumoto, Naomichi; Aoki, Yoko Share Save Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}