未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis
Chida-Nagai, Ayako; Akagawa, Hiroyuki; Sawai, Saori; Ma, Yue-Jiao; Yakuwa, Satoshi; Muneuchi, Jun; Yasuda, Kazushi; Yamazawa, Hirokuni; Yamamoto, Toshiyuki; Takakuwa, Emi; Tomaru, Utano; Furutani, Yoshiyuki; Kato, Tatsuya; Harada, Gen; Inai, Kei; Nakanishi, Toshio; Manabe, Atsushi; Takeda, Atsuhito; Jing, Zhi-Cheng 分享 收藏 分享 收藏 分享 收藏 A Japanese patient with a 2p25.3 terminal deletion presented with early-onset obesity, intellectual disability and diabetes mellitus: A case reportSakaue, Taka-aki; Obata, Yoshinari; Fujishima, Yuya; Kozawa, Junji; Otsuki, Michio; Yamamoto, Toshiyuki; Maeda, Norikazu; Nishizawa, Hitoshi; Shimomura, Iichiro 分享 收藏 Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neuronsIchise, Eisuke; Chiyonobu, Tomohiro; Ishikawa, Mitsuru; Tanaka, Yasuyoshi; Shibata, Mami; Tozawa, Takenori; Taura, Yoshihiro; Yamashita, Satoshi; Yoshida, Michiko; Morimoto, Masafumi; Higurashi, Norimichi; Yamamoto, Toshiyuki; Okano, Hideyuki; Hirose, Shinichi 分享 收藏 More prominent fibrosis of the cricopharyngeal muscle in inclusion body myositis包涵体肌炎中更突出的环咽肌纤维化Taira, Kenichiro; Mori-Yoshimura, Madoka; Yamamoto, Toshiyuki; Sajima, Kazuaki; Takizawa, Hotake; Shinmi, Jun; Oya, Yasushi; Nito, Takaharu; Nishino, Ichizo; Takahashi, Yuji 分享 收藏 Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5′-PhosphateAkiyama, Tomoyuki; Hyodo, Yuki; Hasegawa, Kosei; Oboshi, Taikan; Imai, Katsumi; Ishihara, Naoko; Dowa, Yuri; Koike, Takayoshi; Yamamoto, Toshiyuki; Shibasaki, Jun; Shimbo, Hiroko; Fukuyama, Tetsuhiro; Takano, Kyoko; Shiraku, Hiroshi; Takeshita, Saoko; Okanishi, Tohru; Baba, Shimpei; Kubota, Masaya; Hamano, Shin-ichiro; Kobayashi, Katsuhiro 分享 收藏 De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome聚集在解旋酶域之外的De novo SMARCA2变体导致一种新的可识别的综合征，具有智力障碍和眼睑病，不同于Nicolaides-Baraitser综合征Cappuccio, Gerarda; Sayou, Camille; Le Tanno, Pauline; Tisserant, Emilie; Bruel, Ange-Line; El Kennani, Sara; Sa, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicova, Marketa; Hancarova, Miroslava; Eichler, Evan E.; Devillard, Francoise; Moutton, Sebastien; Van-Gils, Julien; Dubourg, Christele; Odent, Sylvie; Gerard, Benedicte; Piton, Amelie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenael; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis C.; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sergio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jerome; Vitobello, Antonio; Brunetti-Pierri, Nicola; Casari, Giorgio; Pinelli, Michele; Musacchia, Francesco; Mutarelli, Margherita; Carrella, Diego; Vitiello, Giuseppina; Capra, Valeria; Parenti, Giancarlo; Leuzzi, Vincenzo; Selicorni, Angelo; Maitz, Silvia; Banfi, Sandro; Zollino, Marcella; Montomoli, Mario; Milani, Donatelli; Romano, Corrado; Tummolo, Albina; De Brasi, Daniele; Coppola, Antonietta; Santoro, Claudia; Peron, Angela; Pantaleoni, Chiara; Castello, Raffaele; D'Arrigo, Stefano 分享 收藏 分享 收藏 分享 收藏 The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplicationsKato, Takema; Inagaki, Hidehito; Miyai, Syunsuke; Suzuki, Fumihiko; Naru, Yuki; Shinkai, Yasuko; Kato, Asuka; Kanyama, Kazuo; Mizuno, Seiji; Muramatsu, Yukako; Yamamoto, Toshiyuki; Shinya, Mitsuhisa; Tazaki, Yukiko; Hiwatashi, Sayuri; Ikeda, Toshiro; Ozaki, Mamoru; Kurahashi, Hiroki 分享 收藏 分享 收藏 Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure (vol 34, pg 2340, 2019)Sato, Takeshi; Sugiura-Ogasawara, Mayumi; Ozawa, Fumiko; Yamamoto, Toshiyuki; Kato, Takema; Kurahashi, Hiroki; Kuroda, Tomoko; Aoyama, Naoki; Kato, Keiichi; Kobayashi, Ryota; Fukuda, Aisaku; Utsunomiya, Takafumi; Kuwahara, Akira; Saito, Hidekazu; Takeshita, Toshiyuki; Irahara, Minoru 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png)
GENETICS IN MEDICINE.png)
OAAI