1. Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss. Issue 5 (28th October 2015) Authors: Sakazume, Satoru; Kido, Yasuhiro; Murakami, Nobuyuki; Matsubara, Tomoyo; Numabe, Hironao Journal: Pediatrics international Issue: Volume 57:Issue 5(2015) Page Start: 880 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism spectrum disorders and hyperactive/impulsive behaviors in Japanese patients with Prader–Willi syndrome: A comparison between maternal uniparental disomy and deletion cases. Issue 9 (21st May 2014) Authors: Ogata, Hiroyuki; Ihara, Hiroshi; Murakami, Nobuyuki; Gito, Masao; Kido, Yasuhiro; Nagai, Toshiro Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2180 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosomal abnormalities in 1354 Japanese patients with azoospermia due to spermatogenic dysfunction. (30th November 2015) Authors: Shin, Takeshi; Iwahata, Toshiyuki; Kobori, Yoshitomo; Kido, Yasuhiro; Soh, Shigehiro; Okada, Hiroshi Journal: International journal of urology Issue: Volume 23:Number 2(2016) Page Start: 188 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Current status of non‐invasive prenatal testing in Japan. Issue 8 (6th June 2017) Authors: Samura, Osamu; Sekizawa, Akihiko; Suzumori, Nobuhiro; Sasaki, Aiko; Wada, Seiji; Hamanoue, Haruka; Hirahara, Fumiki; Sawai, Hideaki; Nakamura, Hiroaki; Yamada, Takahiro; Miura, Kiyonori; Masuzaki, Hideaki; Nakayama, Setsuko; Okai, Takashi; Kamei, Yoshimasa; Namba, Akira; Murotsuki, Jun; Tanemoto,... Journal: Journal of obstetrics and gynaecology research Issue: Volume 43:Issue 8(2017) Page Start: 1245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Differing phenotypes of Moyamoya disease in a familial case involving heterozygous c.14429G > A variant in RNF213. Issue 4 (August 2015) Authors: Inoue, Takeshi; Murakami, Nobuyuki; Sakadume, Satoru; Kido, Yasuhiro; Kikuchi, Astuo; Ichinoi, Natsuko; Suzuki, Kensuke; Kure, Shigeo; Sakuta, Ryoichi Journal: Pediatrics international Issue: Volume 57:Issue 4(2015) Page Start: 798 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Issue 3 (4th January 2022) Authors: Enomoto, Yumi; Yokoi, Takayuki; Tsurusaki, Yoshinori; Murakami, Hiroaki; Tominaga, Makiko; Minatogawa, Mari; Abe‐Hatano, Chihiro; Kuroda, Yukiko; Ohashi, Ikuko; Ida, Kazumi; Shiiya, Shizuka; Kumaki, Tatsuro; Naruto, Takuya; Mitsui, Jun; Harada, Noriaki; Kido, Yasuhiro; Kurosawa, Kenji Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 335 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Issue 9 (2nd August 2013) Authors: Kido, Yasuhiro; Gordon, Christopher T.; Sakazume, Satoru; Bdira, Eya Ben; Dattani, Mehul; Wilson, Louise C.; Lyonnet, Stanislas; Murakami, Nobuyuki; Cunningham, Michael L.; Amiel, Jeanne; Nagai, Toshiro Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2339 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. Issue 9 (2nd August 2013) Authors: Kido, Yasuhiro; Gordon, Christopher T.; Sakazume, Satoru; Bdira, Eya Ben; Dattani, Mehul; Wilson, Louise C.; Lyonnet, Stanislas; Murakami, Nobuyuki; Cunningham, Michael L.; Amiel, Jeanne; Nagai, Toshiro Journal: American journal of medical genetics Issue: Volume 161:Issue 9(2013:Sep.) Page Start: 2339 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Issue 5 (7th March 2022) Authors: Vegas, Nancy; Demir, Zeynep; Gordon, Christopher T.; Breton, Sylvain; Romanelli Tavares, Vanessa L.; Moisset, Hugo; Zechi‐Ceide, Roseli; Kokitsu‐Nakata, Nancy M.; Kido, Yasuhiro; Marlin, Sandrine; Gherbi Halem, Souad; Meerschaut, Ilse; Callewaert, Bert; Chung, Brian; Revencu, Nicole; Lehalle, Dap... Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Intense Exercise Increases Protein Oxidation in Spleen and Liver of Mice. (January 2014) Authors: Kobayashi, Yukiko; Nakatsuji, Aki; Aoi, Wataru; Wada, Sayori; Kuwahata, Masashi; Kido, Yasuhiro Journal: Nutrition and metabolic insights Issue: Volume 7(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗