1. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. Issue 1 (December 2017) Authors: 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; Kanem... Journal: BMC medical genetics Issue: Volume 18:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology. Issue 10 (4th August 2017) Authors: Okamoto, Nobuhiko; Tsuchiya, Yuki; Miya, Fuyuki; Tsunoda, Tatsuhiko; Yamashita, Kumiko; Boroevich, Keith A.; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Kitagawa, Daiju Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2690 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I. Issue 6 (1st April 2013) Authors: Itoh, Kyoko; Pooh, Ritsuko; Kanemura, Yonehiro; Yamasaki, Mami; Fushiki, Shinji Journal: Neuropathology Issue: Volume 33:Issue 6(2013) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations. Issue 1 (December 2016) Authors: Bamba, Yohei; Shofuda, Tomoko; Kato, Mitsuhiro; Pooh, Ritsuko; Tateishi, Yoko; Takanashi, Jun-ichi; Utsunomiya, Hidetsuna; Sumida, Miho; Kanematsu, Daisuke; Suemizu, Hiroshi; Higuchi, Yuichiro; Akamatsu, Wado; Gallagher, Denis; Miller, Freda; Yamasaki, Mami; Kanemura, Yonehiro; Okano, Hideyuki Journal: Molecular brain Issue: Volume 9:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel MCA/ID syndrome with ASH1L mutation. Issue 6 (10th April 2017) Authors: Okamoto, Nobuhiko; Miya, Fuyuki; Tsunoda, Tatsuhiko; Kato, Mitsuhiro; Saitoh, Shinji; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1644 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel splicing mutation in the ASXL3 gene causing Bainbridge–Ropers syndrome. Issue 7 (13th April 2016) Authors: Hori, Ikumi; Miya, Fuyuki; Ohashi, Kei; Negishi, Yutaka; Hattori, Ayako; Ando, Naoki; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Saitoh, Shinji Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1863 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly. Issue 1 (7th December 2012) Authors: Yoneda, Yuriko; Haginoya, Kazuhiro; Kato, Mitsuhiro; Osaka, Hitoshi; Yokochi, Kenji; Arai, Hiroshi; Kakita, Akiyoshi; Yamamoto, Takamichi; Otsuki, Yoshiro; Shimizu, Shin‐ichi; Wada, Takahito; Koyama, Norihisa; Mino, Yoichi; Kondo, Noriko; Takahashi, Satoru; Hirabayashi, Shinichi; Takanashi, Jun‐i... Journal: Annals of neurology Issue: Volume 73:Issue 1(2013:Jan.) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Prenatal molecular diagnosis of X‐linked hydrocephalus via a silent C924T mutation in the L1CAM gene. (November 2014) Authors: Serikawa, Takehiro; Nishiyama, Kenichi; Tohyama, Jun; Tazawa, Ryushi; Goto, Kiyoe; Kuriyama, Yoko; Haino, Kazufumi; Kanemura, Yonehiro; Yamasaki, Mami; Nakata, Koh; Takakuwa, Koichi; Enomoto, Takayuki Journal: Congenital anomalies Issue: Volume 54:Number 4(2014:Dec.) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Role of a heterotrimeric G‐protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. Issue 1 (29th November 2016) Authors: Hamada, Nanako; Negishi, Yutaka; Mizuno, Makoto; Miya, Fuyuki; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Yamasaki, Mami; Kanemura, Yonehiro; Kosaki, Kenjiro; Tabata, Hidenori; Saitoh, Shinji; Nagata, Koh‐ichi Journal: Journal of neurochemistry Issue: Volume 140:Issue 1(2017) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗