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DerechosPreviewFecha Public.TítuloAutor(es)Tipo
closedAccessaccesoRestringido.pdf.jpgene-1998Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method A study of 38 British Isles pedigreesVotruba, Marcela; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg15-mar-2009Dominant cataract formation in association with a vimentin assembly disrupting mutationMüller, Martin; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.; Prescott, Quincy; Wedig, Tatjana; Herrmann, Harald; Magin, Thomas M.artículo
closedAccessaccesoRestringido.pdf.jpgoct-1998Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRYVotruba, Marcela; Payne, Annette M.; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
openAccessfphys-10-00688.pdf.jpg4-jun-2019Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse and humansKnöpfel, Emilia Boiadjieva; Vilches, Clara; Camargo, Simone M. R.; Errasti-Murugarren, Ekaitz; Stäubli, Andrina; Mayayo, Clara; Munier, Francis L.; Miroshnikova, Nataliya; Poncet, Nadège; Junza, Alexandra; Bhattacharya, Shom Shanker CSIC ORCID; Prat, Esther; Berry, Vanita; Berger, Wolfgang; Heon, Elise; Moore, Anthony T.; Yanes, Óscar; Nunes, Virginia; Palacín, Manuel; Verrey, Francois; Kloeckener-Gruissem, Barbaraartículo
openAccess22-may-2008Effect of Gene Therapy on Visual Function in Leber's Congenital AmaurosisBainbridge, James W. B.; Smith, Alexander J.; Barker, Susie S.; Robbie, Scott; Henderson, Robert H.; Balaggan, Kamaljit; Viswanathan, Ananth; Holder, Graham E.; Stockman, Andrew; Tyler, Nick; Petersen-Jones, Simon; Bhattacharya, Shom Shanker CSIC ORCID; Thrasher, Adrián J.; Fitzke, Fred W.; Carter, Barrie J.; Rubin, Gary S.; Moore, Anthony T.; Ali, Robin R.artículo
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