1. Clinical and genetic characteristics of patients with Doose syndrome. Issue 3 (23rd July 2020) Authors: Hinokuma, Nodoka; Nakashima, Mitsuko; Asai, Hideyuki; Nakamura, Kazuyuki; Akaboshi, Shinjiro; Fukuoka, Masataka; Togawa, Masami; Oana, Shingo; Ohno, Koyo; Kasai, Mariko; Ogawa, Chikako; Yamamoto, Kazuna; Okumiya, Kiyohito; Chong, Pin Fee; Kira, Ryutaro; Uchino, Shumpei; Fukuyama, Tetsuhiro; Shina... Journal: Epilepsia open Issue: Volume 5:Issue 3(2020) Page Start: 442 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Crohn's disease and chronic recurrent multifocal osteomyelitis in a Japanese boy. Issue 1 (27th December 2020) Authors: Fujisaki, Toru; Matsuishi, Toshiya; Kamizono, Junji; Amamoto, Masano; Mizuochi, Tatsuki Journal: Pediatrics international Issue: Volume 63:Issue 1(2021) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Crohn's disease and chronic recurrent multifocal osteomyelitis in a Japanese boy. Issue 1 (27th December 2020) Authors: Fujisaki, Toru; Matsuishi, Toshiya; Kamizono, Junji; Amamoto, Masano; Mizuochi, Tatsuki Journal: Pediatrics international Issue: Volume 63:Issue 1(2021) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Issue 6 (6th March 2019) Authors: Iwama, Kazuhiro; Mizuguchi, Takeshi; Takeshita, Eri; Nakagawa, Eiji; Okazaki, Tetsuya; Nomura, Yoshiko; Iijima, Yoshitaka; Kajiura, Ichiro; Sugai, Kenji; Saito, Takashi; Sasaki, Masayuki; Yuge, Kotaro; Saikusa, Tomoko; Okamoto, Nobuhiko; Takahashi, Satoru; Amamoto, Masano; Tomita, Ichiro; Kumada,... Journal: Journal of medical genetics Issue: Volume 56:Issue 6(2019) Page Start: 396 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Nasopharyngeal airway for upper airway obstruction in infectious mononucleosis. Issue 5 (28th April 2020) Authors: Fukumasa, Hiroshi; Tanaka, Chiaki; Kobayashi, Masashi; Hayano, Shunsuke; Amamoto, Masano Journal: Pediatrics international Issue: Volume 62:Issue 5(2020) Page Start: 642 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Parotid gland atrophy after conservative treatment of a post-traumatic parotid fistula in a two-year-old boy. (November 2020) Authors: Fukumasa, Hiroshi; Tsuda, Masayoshi; Ninomiya, Ryo; Kobayashi, Masashi; Nishiyama, Kazutaka; Ito, Ayami; Tasaki, Yukihiro; Amamoto, Masano Journal: International journal of pediatric otorhinolaryngology Issue: Volume 138(2020:Nov.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Perampanel markedly improved clinical seizures in a patient with a Rett‐like phenotype and 960‐kb deletion on chromosome 9q34.11 including the STXBP1. Issue 5 (15th May 2022) Authors: Yoshida, Syun; Amamoto, Masano; Takahashi, Tomoyuki; Tomita, Ichiro; Yuge, Kotaro; Hara, Munetsugu; Iwama, Kazuhiro; Matsumoto, Naomichi; Matsuishi, Toyojiro Journal: Clinical case reports Issue: Volume 10:Issue 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. Issue 7 (10th May 2013) Authors: Kodera, Hirofumi; Kato, Mitsuhiro; Nord, Alex S.; Walsh, Tom; Lee, Ming; Yamanaka, Gaku; Tohyama, Jun; Nakamura, Kazuyuki; Nakagawa, Eiji; Ikeda, Tae; Ben‐Zeev, Bruria; Lev, Dorit; Lerman‐Sagie, Tally; Straussberg, Rachel; Tanabe, Saori; Ueda, Kazutoshi; Amamoto, Masano; Ohta, Sayaka; Nonoda, Yut... Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1262 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗