1. A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in‐frame deletion. Issue 4 (8th January 2021) Authors: Miyake, Noriko; de Oliveira Stephan, Bruno; Kim, Chong Ae; Matsumoto, Naomichi Journal: Clinical genetics Issue: Volume 99:Issue 4(2021) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of Candida albicans fungus balls in the urinary tract appeared during the course of antifungal treatment for Candida endophthalmitis. Issue 9 (September 2015) Authors: Onozawa, Kyoko; Miyake, Noriko; Iwasaki, Noriko; Nishida, Ruriko; Chong, Yong; Shimoda, Shinji; Shimono, Nobuyuki; Akashi, Koichi Journal: Journal of infection and chemotherapy Issue: Volume 21:Issue 9(2015:Sep.) Page Start: 687 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A case of cerebral hypomyelination with spondylo‐epi‐metaphyseal dysplasia1. Issue 1 (13th December 2012) Authors: Kimura‐Ohba, Shihoko; Kagitani‐Shimono, Kuriko; Hashimoto, Natsuko; Nabatame, Shin; Okinaga, Takeshi; Murakami, Akira; Miyake, Noriko; Matsumoto, Naomichi; Osaka, Hitoshi; Hojo, Keiko; Tomita, Reiko; Taniike, Masako; Ozono, Keiichi Journal: American journal of medical genetics Issue: Volume 161:Issue 1(2013:Jan.) Page Start: 203 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A de novo 1.4‐Mb deletion at 21q22.11 in a boy with developmental delay. Issue 4 (23rd January 2014) Authors: Fukai, Ryoko; Hiraki, Yoko; Nishimura, Gen; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Saitsu, Hirotomo; Matsumoto, Naomichi; Miyake, Noriko Journal: American journal of medical genetics Issue: Volume 164:Issue 4(2014.) Page Start: 1021 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome. Issue 5 (5th March 2013) Authors: Miyatake, Satoko; Murakami, Akira; Okamoto, Nobuhiko; Sakamoto, Michiko; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1073 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A familial case of PDE10A‐associated childhood‐onset chorea with bilateral striatal lesions. Issue 1 (22nd November 2017) Authors: Miyatake, Satoko; Koshimizu, Eriko; Shirai, Ikuko; Kumada, Satoko; Nakata, Yasuhiro; Kamemaru, Aiko; Nakashima, Mitsuko; Mizuguchi, Takeshi; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi Journal: Movement disorders Issue: Volume 33:Issue 1(2018) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (25th February 2015) Authors: Okubo, Mariko; Fujita, Atsushi; Saito, Yoshiaki; Komaki, Hirofumi; Ishiyama, Akihiko; Takeshita, Eri; Kojima, Emiko; Koichihara, Reiko; Saito, Takashi; Nakagawa, Eiji; Sugai, Kenji; Yamazaki, Hiroko; Kusaka, Kei; Tanaka, Hiroshi; Miyake, Noriko; Matsumoto, Naomichi; Sasaki, Masayuki Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1100 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face. Issue 3 (13th December 2021) Authors: Miyake, Noriko; Silva, Sebastián; Troncoso, Mónica; Okamoto, Nobuhiko; Andachi, Yoshiki; Kato, Mitsuhiro; Iwabuchi, Chisato; Hirose, Mio; Fujita, Atsushi; Uchiyama, Yuri; Matsumoto, Naomichi Journal: Clinical genetics Issue: Volume 101:Issue 3(2022) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia. Issue 6 (3rd September 2018) Authors: Uchiyama, Yuri; Yanagisawa, Kunio; Kunishima, Shinji; Shiina, Masaaki; Ogawa, Yoshiyuki; Nakashima, Mitsuko; Hirato, Junko; Imagawa, Eri; Fujita, Atsushi; Hamanaka, Kohei; Miyatake, Satoko; Mitsuhashi, Satomi; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Handa, Hiroshi; Matsumoto, Naomichi; ... Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. (25th April 2017) Authors: Uchiyama, Yuri; Ogawa, Yoshiyuki; Kunishima, Shinji; Shiina, Masaaki; Nakashima, Mitsuko; Yanagisawa, Kunio; Yokohama, Akihiko; Imagawa, Eri; Miyatake, Satoko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Ogata, Kazuhiro; Handa, Hiroshi; Matsumoto, Naomichi Journal: British journal of haematology Issue: Volume 181:Number 6(2018) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗