1. A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia1. Issue 1 (13th December 2012) Authors: Kimura‐Ohba, Shihoko; Kagitani‐Shimono, Kuriko; Hashimoto, Natsuko; Nabatame, Shin; Okinaga, Takeshi; Murakami, Akira; Miyake, Noriko; Matsumoto, Naomichi; Osaka, Hitoshi; Hojo, Keiko; Tomita, Reiko; Taniike, Masako; Ozono, Keiichi Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of congenital fiber‐type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation. Issue 9 (27th June 2022) Authors: Matsumoto, Ayumi; Tsuda, Hidetoshi; Furui, Sadahiro; Kawada‐Nagashima, Masako; Anzai, Tatsuya; Seki, Mitsuru; Watanabe, Kazuhisa; Muramatsu, Kazuhiro; Osaka, Hitoshi; Iwamoto, Sadahiko; Nishino, Ichizo; Yamagata, Takanori Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 9(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. Issue 8 (23rd June 2019) Authors: Miyamoto, Sachiko; Nakashima, Mitsuko; Ohashi, Tsukasa; Hiraide, Takuya; Kurosawa, Kenji; Yamamoto, Toshiyuki; Takanashi, Junichi; Osaka, Hitoshi; Inoue, Ken; Miyazaki, Takehiro; Wada, Yoshinao; Okamoto, Nobuhiko; Saitsu, Hirotomo Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome. Issue 10 (5th June 2016) Authors: Miyake, Noriko; Abdel‐Salam, Ghada; Yamagata, Takanori; Eid, Maha M.; Osaka, Hitoshi; Okamoto, Nobuhiko; Mohamed, Amal M.; Ikeda, Takahiro; Afifi, Hanan H.; Piard, Juliette; van Maldergem, Lionel; Mizuguchi, Takeshi; Miyatake, Satoko; Tsurusaki, Yoshinori; Matsumoto, Naomichi Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo DNM1 mutations in two cases of epileptic encephalopathy. (27th November 2015) Authors: Nakashima, Mitsuko; Kouga, Takeshi; Lourenço, Charles Marques; Shiina, Masaaki; Goto, Tomohide; Tsurusaki, Yoshinori; Miyatake, Satoko; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Osaka, Hitoshi; Matsumoto, Naomichi Journal: Epilepsia Issue: Volume 57:issue 1(2016) Page Start: e18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo KCNT1 mutations in early‐onset epileptic encephalopathy. (3rd July 2015) Authors: Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Nobuya; Osaka, Hitoshi; Shiihara, Takashi; Tohyama, Jun; Nabatame, Shin; Azuma, Junji; Fujii, Yuji; Hara, Munetsugu; Tsurusawa, Reimi; Inoue, Takahito; Ogata, Reina; Watanabe, Yoriko; Togashi, Noriko; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yosh... Journal: Epilepsia Issue: Volume 56:issue 9(2015:Sep.) Page Start: e121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy. Issue 12 (15th October 2013) Authors: Kodera, Hirofumi; Nakamura, Kazuyuki; Osaka, Hitoshi; Maegaki, Yoshihiro; Haginoya, Kazuhiro; Mizumoto, Shuji; Kato, Mitsuhiro; Okamoto, Nobuhiko; Iai, Mizue; Kondo, Yukiko; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Hayasaka, Kiyoshi; Sugahara, Kazuyuki; Yuasa, ... Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: 1708 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnostic accuracy of a novel SARS CoV-2 rapid antigen test and usefulness of specimens collected from the anterior nasal cavity. (November 2022) Authors: Tamura, Daisuke; Yamagishi, Hirokazu; Morisawa, Yuji; Mato, Takashi; Nunomiya, Shin; Maehara, Yuta; Ochiai, Yasushi; Okuyama, Shinya; Ohmika, Narumi; Yamagata, Takanori; Osaka, Hitoshi Journal: International journal of infectious diseases Issue: Volume 124(2022) Page Start: 199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early distribution of18 F‐labeled AAV9 vectors in the cerebrospinal fluid after intracerebroventricular or intracisternal magna infusion in non‐human primates. (21st November 2022) Authors: Kumagai, Shinichi; Nakajima, Takeshi; Shimazaki, Kuniko; Kakiuchi, Takeharu; Harada, Norihiro; Ohba, Hiroyuki; Onuki, Yoshiyuki; Takino, Naomi; Ito, Mika; Sato, Makoto; Nakamura, Sachie; Osaka, Hitoshi; Yamagata, Takanori; Kawai, Kensuke; Muramatsu, Shin‐ichi Journal: Journal of gene medicine Issue: Volume 25:Number 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses. Issue 1 (11th November 2020) Authors: Uchiyama, Yuri; Yamaguchi, Daisuke; Iwama, Kazuhiro; Miyatake, Satoko; Hamanaka, Kohei; Tsuchida, Naomi; Aoi, Hiromi; Azuma, Yoshiteru; Itai, Toshiyuki; Saida, Ken; Fukuda, Hiromi; Sekiguchi, Futoshi; Sakaguchi, Tomohiro; Lei, Ming; Ohori, Sachiko; Sakamoto, Masamune; Kato, Mitsuhiro; Koike, Taka... Journal: Human mutation Issue: Volume 42:Issue 1(2021) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗