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Browsing by Author Moore, Anthony T.

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openAccessARTICULOS315257[1].pdf.jpgFeb-2003A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphylomaReddy, M.A.; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
openAccess1992Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutationMoore, Anthony T.; Fitzke, Fred W.; Kemp, Colin M.; Arden, Geoffrey B.; Keen, T. Jeffrey; Inglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCID; Bird, Alan C.artículo
openAccessARTICULOS315036[1].pdf.jpgDec-2007An Assessment of the Apex Microarray Technology in Genotyping Patients with Leber Congenital Amaurosis and Early-Onset Severe Retinal DystrophyHenderson, Robert H.; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
openAccessARTICULOS315731[1].pdf.jpgAug-1993Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic studyMoore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID; Bird, Alan C.artículo
openAccessARTICULOS315483[1].pdf.jpg1999Clinical and genetic heterogeneity in autosomal dominant cataractIonides, Alexander; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
closedAccessMar-1998Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic AtrophyVotruba, Marcela; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
closedAccessOct-1998Clinical features, molecular genetics, and pathophysiology of dominant optic atrophyVotruba, Marcela; 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