Items where Author is "Kondo, Mineo"

2020

Poulter, James A. and Gravett, Molly S. C. and Taylor, Rachel L. and Fujinami, Kaoru and De Zaeytijd, Julie and Bellingham, James and Rehman, Atta Ur and Hayashi, Takaaki and Kondo, Mineo and Rehman, Abdur and Ansar, Muhammad and Donnelly, Dan and Toomes, Carmel and Ali, Manir and U. K. Inherited Retinal Disease Consortium, and De Baere, Elfride and Leroy, Bart P. and Davies, Nigel P. and Henderson, Robert H. and Webster, Andrew R. and Rivolta, Carlo and Mahroo, Omar A. and Arno, Gavin and Black, Graeme C. M. and McKibbin, Martin and Harris, Sarah A. and Khan, Kamron N. and Inglehearn, Chris F.. (2020) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation. pp. 1-13.

2013

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.