11. A novel mutation in SLC1A3 causes episodic ataxia. Issue 2 (February 2018) Authors: Iwama, Kazuhiro; Iwata, Aya; Shiina, Masaaki; Mitsuhashi, Satomi; Miyatake, Satoko; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Ito, Shuichi; Mizuguchi, Takeshi; Matsumoto, Naomichi Journal: Journal of human genetics Issue: Volume 63:Issue 2(2018) Page Start: 207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. Issue 4 (23rd January 2014) Authors: Fujita, Atsushi; Ochi, Nobuhiko; Fujimaki, Hidehiko; Muramatsu, Hideki; Takahashi, Yoshiyuki; Natsume, Jun; Kojima, Seiji; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 998 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. Issue 7 (12th June 2020) Authors: Suzuki, Toshimitsu; Suzuki, Toshifumi; Raveau, Matthieu; Miyake, Noriko; Sudo, Genki; Tsurusaki, Yoshinori; Watanabe, Takaki; Sugaya, Yuki; Tatsukawa, Tetsuya; Mazaki, Emi; Shimohata, Atsushi; Kushima, Itaru; Aleksic, Branko; Shiino, Tomoko; Toyota, Tomoko; Iwayama, Yoshimi; Nakaoka, Kentaro; Ohm... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 7(2020) Page Start: 1117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter. Issue 8 (4th July 2013) Authors: Fujita, Atsushi; Suzumura, Hiroshi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Harada, Naoki; Matsumoto, Naomichi; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1904 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome. Issue 1 (25th November 2013) Authors: Hiraki, Yoko; Miyatake, Satoko; Hayashidani, Michiko; Nishimura, Yutaka; Matsuura, Hiroo; Kamada, Masahiro; Kawagoe, Takuji; Yunoki, Keiji; Okamoto, Nobuhiko; Yofune, Hiroko; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Satisu, Hirotomo; Murakami, Akira; Miyake, Noriko; Nishimura, Gen; Matsumoto, Na... Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. Issue 9 (22nd April 2019) Authors: Otomo, Nao; Takeda, Kazuki; Kawai, Shunsuke; Kou, Ikuyo; Guo, Long; Osawa, Mitsujiro; Alev, Cantas; Kawakami, Noriaki; Miyake, Noriko; Matsumoto, Naomichi; Yasuhiko, Yukuto; Kotani, Toshiaki; Suzuki, Teppei; Uno, Koki; Sudo, Hideki; Inami, Satoshi; Taneichi, Hiroshi; Shigematsu, Hideki; Watanabe,... Journal: Journal of medical genetics Issue: Volume 56:Issue 9(2019) Page Start: 622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Issue 6 (30th November 2018) Authors: Miyatake, Satoko; Schneeberger, Sacha; Koyama, Norihisa; Yokochi, Kenji; Ohmura, Kayo; Shiina, Masaaki; Mori, Harushi; Koshimizu, Eriko; Imagawa, Eri; Uchiyama, Yuri; Mitsuhashi, Satomi; Frith, Martin C.; Fujita, Atsushi; Satoh, Mai; Taguri, Masataka; Tomono, Yasuko; Takahashi, Keita; Doi, Hirosh... Journal: Annals of neurology Issue: Volume 84:Issue 6(2018) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. Issue 5 (July 2018) Authors: Teranishi, Hideto; Koga, Yuhki; Nakashima, Kentaro; Morihana, Eiji; Ishii, Kanako; Sakai, Yasunari; Taguchi, Tomoaki; Oda, Yoshinao; Miyake, Noriko; Matsumoto, Naomichi; Ohga, Shouichi Journal: Journal of pediatric hematology/oncology Issue: Volume 40:Issue 5(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. Issue 1 (30th October 2010) Authors: Furuichi, Tatsuya; Dai, Jin; Cho, Tae-Joon; Sakazume, Satoru; Ikema, Masahide; Matsui, Yoshito; Baynam, Gareth; Nagai, Toshiro; Miyake, Noriko; Matsumoto, Naomichi; Ohashi, Hirofumi; Unger, Sheila; Superti-Furga, Andrea; Kim, Ok-Hwa; Nishimura, Gen; Ikegawa, Shiro Journal: Journal of medical genetics Issue: Volume 48:Issue 1(2011) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics. Issue 5 (1st March 2021) Authors: Honjo, Rachel Sayuri; Castro, Matheus Augusto Araújo; Ferraciolli, Suely Fazio; Soares Junior, Luiz Alberto Valente; Pastorino, Antonio Carlos; Bertola, Débora Romeo; Miyake, Noriko; Matsumoto, Naomichi; Kim, Chong Ae Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗