41. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Issue 9 (2nd August 2013) Authors: Miyake, Noriko; Koshimizu, Eriko; Okamoto, Nobuhiko; Mizuno, Seiji; Ogata, Tsutomu; Nagai, Toshiro; Kosho, Tomoki; Ohashi, Hirofumi; Kato, Mitsuhiro; Sasaki, Goro; Mabe, Hiroyo; Watanabe, Yoriko; Yoshino, Makoto; Matsuishi, Toyojiro; Takanashi, Jun‐Ichi; Shotelersuk, Vorasuk; Tekin, Mustafa; Ochi... Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
42. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. Issue 6 (20th December 2018) Authors: Kato, Kohji; Miya, Fuyuki; Hamada, Nanako; Negishi, Yutaka; Narumi-Kishimoto, Yoko; Ozawa, Hiroshi; Ito, Hidenori; Hori, Ikumi; Hattori, Ayako; Okamoto, Nobuhiko; Kato, Mitsuhiro; Tsunoda, Tatsuhiko; Kanemura, Yonehiro; Kosaki, Kenjiro; Takahashi, Yoshiyuki; Nagata, Koh-ichi; Saitoh, Shinji Journal: Journal of medical genetics Issue: Volume 56:Issue 6(2019) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
43. Novel DCX mutation‐caused lissencephaly in a boy and very mild heterotopia in his mother. Issue 2 (April 2015) Authors: Takeshita, Satoru; Higuchi, Machiko; Suyama, Megumi; Koide, Wakato; Maki, Kanemasa; Ushijima, Katsumi; Ban, Kyoko; Saito, Mariko; Kato, Mitsuhiro; Saitoh, Shinji Journal: Pediatrics international Issue: Volume 57:Issue 2(2015) Page Start: 321 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
44. 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) ↗
45. 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) ↗
46. Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. (16th July 2019) Authors: Fujita, Atsushi; Higashijima, Takefumi; Shirozu, Hiroshi; Masuda, Hiroshi; Sonoda, Masaki; Tohyama, Jun; Kato, Mitsuhiro; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Mitsuhashi, Satomi; Mizuguchi, Takeshi; Takata, Atsushi; Miyatake, Satoko; Miyake, Noriko; Fukuda, Masafumi; Kameyama, Shigeki; Saits... Journal: Neurology Issue: Volume 93:Number 3(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
47. 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) ↗
48. PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. Issue 4 (1st November 2018) Authors: Shiraku, Hiroshi; Nakashima, Mitsuko; Takeshita, Saoko; Khoo, Chai‐Soon; Haniffa, Muzhirah; Ch'ng, Gaik‐Siew; Takada, Kazuma; Nakajima, Keisuke; Ohta, Masayasu; Okanishi, Tohru; Kanai, Sotaro; Fujimoto, Ayataka; Saitsu, Hirotomo; Matsumoto, Naomichi; Kato, Mitsuhiro Journal: Epilepsia open Issue: Volume 3:Issue 4(2018) Page Start: 495 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
49. Prenatal clinical manifestations in individuals with COL4A1/2 variants. Issue 8 (30th July 2020) Authors: Itai, Toshiyuki; Miyatake, Satoko; Taguri, Masataka; Nozaki, Fumihito; Ohta, Masayasu; Osaka, Hitoshi; Morimoto, Masafumi; Tandou, Tomoko; Nohara, Fumikatsu; Takami, Yuichi; Yoshioka, Fumitaka; Shimokawa, Shoko; Okuno-Yuguchi, Jiu; Motobayashi, Mitsuo; Takei, Yuko; Fukuyama, Tetsuhiro; Kumada, Sa... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 505 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
50. Quantizing a multi-pronged open string junction. (12th September 2022) Authors: Asano, Masako; Kato, Mitsuhiro Journal: Progress of theoretical and experimental physics Issue: Volume 2022:Number 10(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗