1. A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Issue 50 (16th December 2022) Authors: Mizumoto, Keitaro; Kato, Kumiko; Fujinami, Kaoru; Sugita, Tadasu; Sugita, Iichiro; Hattori, Ayako; Saitoh, Shinji; Ueno, Shinji; Tsunoda, Kazushige; Iwata, Takeshi; Kondo, Mineo Journal: Medicine Issue: Volume 101:Issue 50(2022) Page Start: e32161 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. (3rd September 2022) Authors: Berry, Vanita; Fujinami, Kaoru; Mochizuki, Kiyofumi; Iwata, Takeshi; Pontikos, Nikolas; Quinlan, Roy A.; Michaelides, Michel Journal: Ophthalmic genetics Issue: Volume 43:Number 5(2022) Page Start: 622 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Advances in vision research. Genetic eye research in Asia and the Pacific / Volume I, (2017) Editors: Prakash, Gyan; Iwata, Takeshi Record Type: Book Extent: 1 online resource (xv, 523 pages), illustrations (some color) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Advances in vision research. Genetic eye research in Asia and the Pacific / Volume II, ([2019]) Editors: Prakash, Gyan, 1956-; Iwata, Takeshi Record Type: Book Extent: 1 online resource (xviii, 468 pages), illustrations (some color) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly). (4th May 2018) Authors: Katagiri, Satoshi; Hayashi, Takaaki; Mizobuchi, Kei; Yoshitake, Kazutoshi; Iwata, Takeshi; Nakano, Tadashi Journal: Ophthalmic genetics Issue: Volume 39:Number 3(2018) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Biological Magnetic Resonance Data Bank. Issue Volume 51:Issue D1(2023) (7th December 2022) Authors: Hoch, Jeffrey C; Baskaran, Kumaran; Burr, Harrison; Chin, John; Eghbalnia, Hamid R; Fujiwara, Toshimichi; Gryk, Michael R; Iwata, Takeshi; Kojima, Chojiro; Kurisu, Genji; Maziuk, Dmitri; Miyanoiri, Yohei; Wedell, Jonathan R; Wilburn, Colin; Yao, Hongyang; Yokochi, Masashi Journal: Nucleic acids research Issue: Volume 51:Issue D1(2023) Page Start: D368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. (4th March 2018) Authors: Kominami, Azusa; Ueno, Shinji; Kominami, Taro; Nakanishi, Ayami; Ito, Yasuki; Fujinami, Kaoru; Tsunoda, Kazushige; Hayashi, Takaaki; Kikuchi, Sachiko; Kameya, Shuhei; Iwata, Takeshi; Terasaki, Hiroko Journal: Ophthalmic genetics Issue: Volume 39:Number 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. Issue 1 (January 2020) Authors: Nakanishi, Ayami; Ueno, Shinji; Hayashi, Takaaki; Katagiri, Satoshi; Ito, Yasuki; Kominami, Taro; Fujinami, Kaoru; Tsunoda, Kazushige; Iwata, Takeshi; Terasaki, Hiroko Journal: Retina Issue: Volume 40:Issue 1(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. Issue 3 (20th August 2020) Authors: Fujinami, Kaoru; Oishi, Akio; Yang, Lizhu; Arno, Gavin; Pontikos, Nikolas; Yoshitake, Kazutoshi; Fujinami‐Yokokawa, Yu; Liu, Xiao; Hayashi, Takaaki; Katagiri, Satoshi; Mizobuchi, Kei; Mizota, Atsushi; Shinoda, Kei; Nakamura, Natsuko; Kurihara, Toshihide; Tsubota, Kazuo; Miyake, Yozo; Iwata, Takes... Other Names: Hufnagel Robert guestEditor.; Walter Michael guestEditor.; Arno Gavin guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 3(2020) Page Start: 656 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1: a case report and mini review. (4th May 2022) Authors: Kayazawa, Tomoyasu; Kuniyoshi, Kazuki; Hatsukawa, Yoshikazu; Fujinami, Kaoru; Yoshitake, Kazutoshi; Tsunoda, Kazushige; Shimojo, Hiroshi; Iwata, Takeshi; Kusaka, Shunji Journal: Ophthalmic genetics Issue: Volume 43:Number 3(2022) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗