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Items where Author is "Inglehearn, Chris F."

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Group by: Date | Item Type | Refereed
Jump to: 2020 | 2016
Number of items: 3.

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.

de Bruijn, Suzanne E. and Fiorentino, Alessia and Ottaviani, Daniele and Fanucchi, Stephanie and Melo, UirĂ¡ S. and Corral-Serrano, Julio C. and Mulders, Timo and Georgiou, Michalis and Rivolta, Carlo and Pontikos, Nikolas and Arno, Gavin and Roberts, Lisa and Greenberg, Jacquie and Albert, Silvia and Gilissen, Christian and Aben, Marco and Rebello, George and Mead, Simon and Raymond, F. Lucy and Corominas, Jordi and Smith, Claire E. L. and Kremer, Hannie and Downes, Susan and Black, Graeme C. and Webster, Andrew R. and Inglehearn, Chris F. and van den Born, L. Ingeborgh and Koenekoop, Robert K. and Michaelides, Michel and Ramesar, Raj S. and Hoyng, Carel B. and Mundlos, Stefan and Mhlanga, Musa M. and Cremers, Frans P. M. and Cheetham, Michael E. and Roosing, Susanne and Hardcastle, Alison J.. (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics, 107 (5). pp. 802-814.

2016

Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555.

This list was generated on Wed Dec 1 04:22:56 2021 CET.