1. A case of Turner's syndrome with Graves' disease and primary hyperparathyroidism. (November 2021) Authors: Nagaki, Shigeru; Tachikawa, Emiko; Kodama, Hitomi; Obara, Takao; Osawa, Makiko; Nagata, Satoru Journal: SAGE open medical case reports Issue: Volume 9(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity12. Issue 4 (12th March 2013) Authors: Shichiji, Minobu; Ito, Yasushi; Shimojima, Keiko; Nakamu, Hidetsugu; Oguni, Hirokazu; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 4(2013:Apr.) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. Issue 7 (23rd May 2013) Authors: Shimada, Shino; Okamoto, Nobuhiko; Hirasawa, Kyoko; Yoshii, Keisuke; Tani, Yumi; Sugawara, Midori; Shimojima, Keiko; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1779 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Extensive morphological and immunohistochemical characterization in myotubular myopathy. Issue 4 (19th June 2013) Authors: Shichiji, Minobu; Biancalana, Valérie; Fardeau, Michel; Hogrel, Jean‐Yves; Osawa, Makiko; Laporte, Jocelyn; Romero, Norma Beatriz Journal: Brain and behavior Issue: Volume 3:Issue 4(2013:Jul.) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. Issue 12 (16th August 2013) Authors: Eto, Kaoru; Sakai, Norio; Shimada, Shino; Shioda, Mutsuki; Ishigaki, Keiko; Hamada, Yusuke; Shinpo, Michiko; Azuma, Junji; Tominaga, Koji; Shimojima, Keiko; Ozono, Keiichi; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 12(2013:Dec.) Page Start: 3049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen‐like phenotype, severe intellectual disability, and autism. Issue 8 (4th July 2013) Authors: Shimada, Shino; Okamoto, Nobuhiko; Nomura, Shohei; Fukui, Miho; Shimakawa, Shuichi; Sangu, Noriko; Shimojima, Keiko; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 2078 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome. Issue 2 (5th December 2013) Authors: Shimada, Shino; Maegaki, Yoshihiro; Osawa, Makiko; Yamamoto, Toshiyuki Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Outcome of vagus nerve stimulation for drug‐resistant epilepsy: the first three years of a prospective Japanese registry. Issue 3 (31st October 2017) Authors: Kawai, Kensuke; Tanaka, Tatsuya; Baba, Hiroshi; Bunker, Mark; Ikeda, Akio; Inoue, Yushi; Kameyama, Shigeki; Kaneko, Sunao; Kato, Amami; Nozawa, Taneyoshi; Maruoka, Eiji; Osawa, Makiko; Otsuki, Taisuke; Tsuji, Sadatoshi; Watanabe, Eiju; Yamamoto, Takamichi Journal: Epileptic disorders Issue: Volume 19:Issue 3(2017) Page Start: 327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission. (3rd September 2018) Authors: Auvin, Stéphane; Wirrell, Elaine; Donald, Kirsten A.; Berl, Madison; Hartmann, Hans; Valente, Kette D.; Van Bogaert, Patrick; Cross, J. Helen; Osawa, Makiko; Kanemura, Hideaki; Aihara, Masao; Guerreiro, Marilisa M.; Samia, Pauline; Vinayan, Kollencheri Puthenveettil; Smith, Mary Lou; Carmant, Lio... Journal: Epilepsia Issue: Volume 59:issue 10(2018) Page Start: 1867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗