Mostrando resultados 7 a 17 de 17
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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess | ![ARTICULOS315483[1].pdf.jpg](/retrieve/1083131/ARTICULOS315483%5b1%5d.pdf.jpg) | 1999 | Clinical and genetic heterogeneity in autosomal dominant cataract | Ionides, Alexander; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T. | artículo |
| closedAccess | | mar-1998 | Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic Atrophy | Votruba, Marcela; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T. | artículo |
| closedAccess | | oct-1998 | Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy | Votruba, Marcela; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess |  | 2000 | Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0) | Francis, Peter J.; Berry, Vanita; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T. | artículo |
| closedAccess |  | ago-1999 | Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin | Berry, Vanita; Mackay, Donna; Khaliq, Shagufta; Francis, Peter J.; Hameed, Abdul; Anwar, Khalid; Mehdi, S. Qasim; Newbold, Richard J.; Ionides, Alexander; Shiels, Alan; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess |  | may-1999 | Connexin46 Mutations in Autosomal Dominant Congenital Cataract | Mackay, Donna; Ionides, Alexander; Kibar, Zoha; Rouleau, Guy; Berry, Vanita; Moore, Anthony T.; Shiels, Alan; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess |  | ene-1998 | Demonstration 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 pedigrees | Votruba, Marcela; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| closedAccess |  | 15-mar-2009 | Dominant cataract formation in association with a vimentin assembly disrupting mutation | Müller, Martin; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.; Prescott, Quincy; Wedig, Tatjana; Herrmann, Harald; Magin, Thomas M. | artículo |
| closedAccess |  | oct-1998 | Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY | Votruba, Marcela; Payne, Annette M.; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
| openAccess |  | 4-jun-2019 | Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse and humans | Knöpfel, 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, Barbara | artículo |
| openAccess | | 22-may-2008 | Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis | Bainbridge, 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 |
