1. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. Issue 8 (17th February 2018) Authors: Nakamura, Akie; Muroya, Koji; Ogata-Kawata, Hiroko; Nakabayashi, Kazuhiko; Matsubara, Keiko; Ogata, Tsutomu; Kurosawa, Kenji; Fukami, Maki; Kagami, Masayo Journal: Journal of medical genetics Issue: Volume 55:Issue 8(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. Issue 8 (8th March 2017) Authors: Morikawa, Shuntaro; Tajima, Toshihiro; Nakamura, Akie; Ishizu, Katsura; Ariga, Tadashi Journal: Pediatric diabetes Issue: Volume 18:Issue 8(2017) Page Start: 934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Adrenal function during long‐term ACTH therapy for patients with developmental and epileptic encephalopathy. Issue 1 (14th December 2021) Authors: Ueda, Yuki; Fujishige, Shuta; Goto, Takeru; Kimura, Shuhei; Namatame, Noriko; Narugami, Masashi; Nakakubo, Sachiko; Nakajima, Midori; Egawa, Kiyoshi; Kaneko, Naoya; Nakayama, Kanako; Hishimura, Nozomi; Yamaguchi, Takeshi; Nakamura, Akie; Shiraishi, Hideaki Journal: Epilepsia open Issue: Volume 7:Issue 1(2022) Page Start: 194 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Burosumab Improved Histomorphometric Measures of Osteomalacia in Adults with X‐Linked Hypophosphatemia: A Phase 3, Single‐Arm, International Trial. (1st October 2019) Authors: Insogna, Karl L; Rauch, Frank; Kamenický, Peter; Ito, Nobuaki; Kubota, Takuo; Nakamura, Akie; Zhang, Lin; Mealiffe, Matt; San Martin, Javier; Portale, Anthony A Journal: Journal of bone and mineral research Issue: Volume 34:Number 12(2019) Page Start: 2183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Case of miliaria rubra histologically showing neutrophilic eccrine hidradenitis due to hyperhidrosis induced by a catecholamine‐producing neuroblastoma. Issue 3 (7th January 2020) Authors: Katayama, Sho; Iwata, Hiroaki; Nomura, Yukiko; Nakamura, Akie; Yamaguchi, Takeshi; Hishimura, Nozomi; Nakayama, Kanako; Hashimoto, Kahoko; Honda, Shohei; Shimizu, Hiroshi Journal: Journal of dermatology Issue: Volume 47:Issue 3(2020) Page Start: e92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes. Issue 2 (9th June 2017) Authors: Ushijima, Kikumi; Fukami, Maki; Ayabe, Tadayuki; Narumi, Satoshi; Okuno, Misako; Nakamura, Akie; Takahashi, Toshikazu; Ihara, Kenji; Ohkubo, Kazuhiro; Tachikawa, Emiko; Nakayama, Shoji; Arai, Junichi; Kikuchi, Nobuyuki; Kikuchi, Toru; Kawamura, Tomoyuki; Urakami, Tatsuhiko; Hata, Kenichiro; Nakab... Journal: Pediatric diabetes Issue: Volume 19:Issue 2(2018) Page Start: 243 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Continuous hypomethylation of the KCNQ1OT1:TSS‐DMR in monochorionic twins discordant for Beckwith‐Wiedemann syndrome. Issue 10 (16th August 2017) Authors: Inoue, Takanobu; Nakamura, Akie; Matsubara, Keiko; Nyuzuki, Hiromi; Nagasaki, Keisuke; Oka, Akira; Fukami, Maki; Kagami, Masayo Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Cover Image, Volume 39, Issue 6. Issue 6 (June 2018) Authors: Nakamura, Shigeru; Kobori, Yoshitomo; Ueda, Yoshihiko; Tanaka, Yoko; Ishikawa, Hiromichi; Yoshida, Atsumi; Katsumi, Momori; Saito, Kazuki; Nakamura, Akie; Ogata, Tsutomu; Okada, Hiroshi; Nakai, Hideo; Miyado, Mami; Fukami, Maki Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus. (17th August 2022) Authors: Kawashima, Sayaka; Yuno, Akiko; Sano, Shinichiro; Nakamura, Akie; Ishiwata, Keisuke; Kawasaki, Tomoyuki; Hosomichi, Kazuyoshi; Nakabayashi, Kazuhiko; Akutsu, Hidenori; Saitsu, Hirotomo; Fukami, Maki; Usui, Takeshi; Ogata, Tsutomu; Kagami, Masayo Journal: Journal of bone and mineral research Issue: Volume 37:Number 10(2022) Page Start: 1850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hypoglycemia in type 1A diabetes can develop before insulin therapy: A retrospective cohort study. (January 2019) Authors: Yamaguchi, Takeshi; Hachiya, Rumi; Watanabe-Yamamoto, Sayaka; Sawano, Kentaro; Morikawa, Shuntaro; Nakamura, Akie; Hasegawa, Yukihiro Journal: Diabetes research and clinical practice Issue: Volume 147(2019) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗