Buscar en: Centro Andaluz de Biología Molecular y Medicina Regenerativa (CABIMER)

Empiece una nueva busqueda
Add/Remove Filters (2 filters currently applied)

Resultados 1-10 de 17.
 |  Relevancia

 

Resultados por ítem:
DerechosPreviewFecha Public.TítuloAutor(es)Tipo
1closedAccessmar-1998Clinical Features in Affected Individuals From 21 Pedigrees With Dominant Optic AtrophyVotruba, Marcela; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
2openAccessARTICULOS315036[1].pdf.jpgdic-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
3closedAccessoct-1998Clinical features, molecular genetics, and pathophysiology of dominant optic atrophyVotruba, Marcela; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
4closedAccessaccesoRestringido.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
5closedAccessaccesoRestringido.pdf.jpg2000Congenital 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
6closedAccessaccesoRestringido.pdf.jpgmay-1999Connexin46 Mutations in Autosomal Dominant Congenital CataractMackay, Donna; Ionides, Alexander; Kibar, Zoha; Rouleau, Guy; Berry, Vanita; Moore, Anthony T.; Shiels, Alan; Bhattacharya, Shom Shanker CSIC ORCIDartículo
7openAccessfphys-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
8openAccessARTICULOS315483[1].pdf.jpg1999Clinical and genetic heterogeneity in autosomal dominant cataractIonides, Alexander; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
9closedAccessaccesoRestringido.pdf.jpg1-mar-1998Anterior polar cataract: clinical spectrum and genetic linkage in a single familyIonides, Alexander; Berry, Vanita; Mackay, Donna; Shiels, Alan; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T.artículo
10openAccess1992Abnormal 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