Fibrin sheath of a peripherally inserted central catheter undepicted with gray-scale (real-time B-mode) ultrasonography: A case report

por Mogi, Naoko, Nakagawa, Motoo, Matsumae, Hidekazu, Hattori, Ayako, Shimohira, Masashi, Shibamoto, Yuta
Publicado 2018

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

por Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo
Publicado 2019

A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

por Ieda, Daisuke, Hori, Ikumi, Nakamura, Yuji, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Arisaka, Atsuko, Hasegawa, Setsuko, Saitoh, Shinji
Publicado 2019

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes

por Kondo, Yuto, Aoyama, Kohei, Suzuki, Hisato, Hattori, Ayako, Hori, Ikumi, Ito, Koichi, Yoshida, Aya, Koroki, Mari, Ueda, Kentaro, Kosaki, Kenjiro, Saitoh, Shinji
Publicado 2020

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

por Mizumoto, Keitaro, Kato, Kumiko, Fujinami, Kaoru, Sugita, Tadasu, Sugita, Iichiro, Hattori, Ayako, Saitoh, Shinji, Ueno, Shinji, Tsunoda, Kazushige, Iwata, Takeshi, Kondo, Mineo
Publicado 2022

Truncating mutation in NFIA causes brain malformation and urinary tract defects

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Mizuno, Kentaro, Hori, Ikumi, Ando, Naoki, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji
Publicado 2015

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

por Nakamura, Yuji, Okuno, Yusuke, Muramatsu, Hideki, Kawai, Tomoko, Satou, Kazuhito, Ieda, Daisuke, Hori, Ikumi, Ohashi, Kei, Negishi, Yutaka, Hattori, Ayako, Takahashi, Yoshiyuki, Kojima, Seiji, Saitoh, Shinji
Publicado 2019

Oxidative and Inflammatory Markers Are Higher in Full-Term Newborns Suffering Funisitis, and Higher Oxidative Markers Are Associated with Admission

por Kamei, Michi, Hussein, Mohamed Hamed, Hattori, Ayako, Saleh, Marwa, Kakita, Hiroki, Abdel-Hamid Daoud, Ghada, Ishiguro, Akio, Namba, Fumihiko, Yazaki, Makoto, Goto, Haruo, Kato, Ineko, Sobajima, Hisanori, Kazuhiko, Kabe, Moriwaki, Koichi, Togari, Hajime
Publicado 2022

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Publicado 2017

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

por Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji
Publicado 2017