1. Improved growth velocity of a patient with Noonan‐like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low‐dose growth hormone therapy. (19th June 2015) Authors: Takasawa, Kei; Takishima, Shigeru; Morioka, Chikako; Nishioka, Masato; Ohashi, Hirofumi; Aoki, Yoko; Shimohira, Masayuki; Kashimada, Kenichi; Morio, Tomohiro Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Case of Noonan Syndrome With an Expanding Coronary Arterial Aneurysm. (September 2019) Authors: Ogihara, Yoshito; Fujimoto, Naoki; Ohashi, Hiroyuki; Yamamoto, Naoki; Ito, Hisato; Mitani, Yoshihide; Aoki, Yoko; Imanaka-Yosida, Kyoko; Ito, Masaaki; Dohi, Kaoru Journal: Circulation Issue: Volume 12:Number 9(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Issue 6 (25th April 2019) Authors: Iwasawa, Shinya; Yanagi, Kumiko; Kikuchi, Atsuo; Kobayashi, Yasuko; Haginoya, Kazuhiro; Matsumoto, Hiroshi; Kurosawa, Kenji; Ochiai, Masayuki; Sakai, Yasunari; Fujita, Atsushi; Miyake, Noriko; Niihori, Tetsuya; Shirota, Matsuyuki; Funayama, Ryo; Nonoyama, Shigeaki; Ohga, Shouichi; Kawame, Hiroshi... Journal: Annals of neurology Issue: Volume 85:Issue 6(2019) Page Start: 927 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Japanese clinical practice guidelines for vascular anomalies 2017. Issue 3 (22nd March 2020) Authors: Mimura, Hidefumi; Akita, Sadanori; Fujino, Akihiro; Jinnin, Masatoshi; Ozaki, Mine; Osuga, Keigo; Nakaoka, Hiroki; Morii, Eiichi; Kuramochi, Akira; Aoki, Yoko; Arai, Yasunori; Aramaki, Noriko; Inoue, Masanori; Iwashina, Yuki; Iwanaka, Tadashi; Ueno, Shigeru; Umezawa, Akihiro; Ozeki, Michio; Ochi,... Journal: Pediatrics international Issue: Volume 62:Issue 3(2020) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chronological changes of mumps virus genotypes in Japan between 1999–2013. Issue 7 (2nd July 2016) Authors: Aoki, Yoko; Matoba, Yohei; Tanaka, Shizuka; Yahagi, Kazue; Itagaki, Tsutomu; Katsushima, Fumio; Katsushima, Yuriko; Takeda, Makoto; Mizuta, Katsumi Journal: Infectious diseases Issue: Volume 48:Issue 7(2016:Jul.) Page Start: 524 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. Issue 3 (14th March 2007) Authors: Kanno, Junko; Hutchin, Tim; Kamada, Fumiaki; Narisawa, Ayumi; Aoki, Yoko; Matsubara, Yoichi; Kure, Shigeo Journal: Journal of medical genetics Issue: Volume 44:Issue 3(2007) Page Start: e69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Seroprevalence of parechovirus A1, A3 and A4 antibodies in Yamagata, Japan, between 1976 and 2017. Issue 12 (10th December 2020) Authors: Mizuta, Katsumi; Komabayashi, Kenichi; Aoki, Yoko; Itagaki, Tsutomu; Ikeda, Tatsuya Journal: Journal of medical microbiology Issue: Volume 69:Issue 12(2020) Page Start: 1381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery. Issue 6 (9th March 2022) Authors: Kontaridis, Maria I.; Roberts, Amy E.; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Andelfinger, Gregor; Aoki, Yoko; Axelrad, Marni E.; Bakker, Annette; Bennett, Anton M.; Broniscer, Alberto; Castel, Pau; Chang, Caitlin A.; Cyganek, Lukas; Das, Tirtha K.; den Hertog, Jeroen; Galperin, Emilia; Gar... Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Metachondromatosis without Enchondromas: A Case Report and Review of the Literature. Issue 2 (27th April 2016) Authors: Kanaya, Kohei; Ishikawa, Aki; Yaoita, Masako; Niihori, Tetsuya; Aoki, Yoko; Iba, Kousuke; Yamashita, Toshihiko Journal: JBJS case connector Issue: Volume 6:Issue 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A novel 8.57‐kb deletion of the upstream region of PRKAR1A in a family with Carney complex. Issue 3 (6th February 2022) Authors: Ito, Shin; Hashimoto, Aya; Yamaguchi, Kazunori; Kawamura, Sadafumi; Myoen, Shingo; Ogawa, Maki; Sato, Ikuro; Minato, Takamichi; Miyabe, Shingo; Nakazato, Akira; Fujii, Keitaro; Mochizuki, Mai; Fujimori, Haruna; Tamai, Keiichi; Niihori, Tetsuya; Aoki, Yoko; Sugawara, Akira; Sasano, Hironobu; Shima... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗