1. A Case of M-Type Phospholipase A2 Receptor-Associated Membranous Nephropathy With IgG4-Positive Cells Infiltration in the Interstitium. Issue 15 (February 2022) Authors: Ishibuchi, Kento; Iwakura, Takamasa; Ema, Chiemi; Nakagami, Daisuke; Uchiyama, Yuri; Kaneko, Mai; Fukasawa, Hirotaka; Matsuyama, Takashi; Yasuda, Hideo; Furuya, Ryuichi Journal: Clinical medicine insights Issue: Issue 15(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of VEXAS syndrome with Sweet's disease and pulmonary involvement. Issue 5 (15th February 2022) Authors: Matsubara, Akihiro; Tsuchida, Naomi; Sakurai, Mai; Maeda, Ayaka; Uchiyama, Yuri; Sasaki, Kaneshige; Haji, Yoichiro; Kirino, Yohei; Matsumoto, Naomichi; Morita, Akimichi Journal: Journal of dermatology Issue: Volume 49:Issue 5(2022) Page Start: e177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. 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) ↗
6. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome. Issue 21 (14th June 2021) Authors: Fjær, Roar; Marciniak, Katarzyna; Sundnes, Olav; Hjorthaug, Hanne; Sheng, Ying; Hammarström, Clara; Sitek, Jan Cezary; Vigeland, Magnus Dehli; Backe, Paul Hoff; Øye, Ane-Marte; Fosse, Johanna Hol; Stav-Noraas, Tor Espen; Uchiyama, Yuri; Matsumoto, Naomichi; Comi, Anne; Pevsner, Jonathan; Haraldse... Journal: Human molecular genetics Issue: Volume 30:Issue 21(2021) Page Start: 1919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Issue 6 (30th November 2018) Authors: Miyatake, Satoko; Schneeberger, Sacha; Koyama, Norihisa; Yokochi, Kenji; Ohmura, Kayo; Shiina, Masaaki; Mori, Harushi; Koshimizu, Eriko; Imagawa, Eri; Uchiyama, Yuri; Mitsuhashi, Satomi; Frith, Martin C.; Fujita, Atsushi; Satoh, Mai; Taguri, Masataka; Tomono, Yasuko; Takahashi, Keita; Doi, Hirosh... Journal: Annals of neurology Issue: Volume 84:Issue 6(2018) Page Start: 843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical images: VEXAS syndrome presenting as treatment‐refractory polyarteritis nodosa. Issue 11 (29th September 2022) Authors: Itagane, Masaki; Teruya, Hiroyuki; Kato, Tomohiro; Tsuchida, Naomi; Maeda, Ayaka; Kirino, Yohei; Uchiyama, Yuri; Matsumoto, Naomichi; Kinjo, Mitsuyo Journal: Arthritis & rheumatology Issue: Volume 74:Issue 11(2022) Page Start: 1863 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality. Issue 1 (4th August 2021) Authors: Sakamoto, Masamune; Sasaki, Kazunori; Sugie, Atsushi; Nitta, Yohei; Kimura, Tetsuaki; Gürsoy, Semra; Cinleti, Tayfun; Iai, Mizue; Sengoku, Toru; Ogata, Kazuhiro; Suzuki, Atsushi; Okamoto, Nobuhiko; Iwama, Kazuhiro; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Fujita, Atsushi; Hamanaka, Kohe... Journal: Human molecular genetics Issue: Volume 31:Issue 1(2022) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia. Issue 1 (5th April 2022) Authors: Itai, Toshiyuki; Wang, Zheng; Nishimura, Gen; Ohashi, Hirofumi; Guo, Long; Wakano, Yasuhiro; Sugiura, Takahiro; Hayakawa, Hiromi; Okada, Mayumi; Saisu, Takashi; Kitta, Ayana; Doi, Hiroshi; Kurosawa, Kenji; Hotta, Yoshihiro; Hosono, Katsuhiro; Sato, Miho; Shimizu, Kenji; Takikawa, Kazuharu; Watana... Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗