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RightsPreviewIssue DateTitleAuthor(s)Type
openAccess267Spanish.pdf.jpg13-Jan-2016267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic VariationDopazo, Joaquín CSIC ORCID; Rodríguez-Pérez, Juan Antonio CSIC ORCID; Daub, Josephine T. CSIC ORCID; Muntané, Gerard CSIC ORCID; Ruiz-Ferrer, Macarena CSIC; Méndez-Vidal, Cristina CSIC ORCID; Bhattacharya, Shom Shanker CSIC ORCID; Borrego, Salud CSIC ORCID; Antiñolo, Guillermo CSIC ORCIDartículo
closedAccess1994A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa familyAl-Maghtheh, Mai; Kim, Robert Y.; Hardcastle, Alison; Inglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
openAccessARTICULOS315775[1].pdf.jpgJan-1991A 3-bp Deletion in the Rhodopsin Gene in a Family with Autosomal Dominant Retinitis PigmentosaInglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg29-Aug-1987A case of disputed maternityRoberts, D. F.; Papiha, S. S.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
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
closedAccessaccesoRestringido.pdf.jpg2005A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in british populationEl-Ashry, Mohamed F.; Abd El-Aziz, Mai M.; Hardcastle, Alison; Bhattacharya, Shom Shanker CSIC ORCID; Ebenezer, Neil D.artículo
closedAccessaccesoRestringido.pdf.jpgJan-2007A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG)El-Ashry, Mohamed F.; Abd El-Aziz, Mai M.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
openAccessARTICULOS315265[1].pdf.jpgJul-2003A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British familiesEl-Ashry, Mohamed F.; Bhattacharya, Shom Shanker CSIC ORCID; Ebenezer, Neil D.artículo
closedAccessaccesoRestringido.pdf.jpgJun-2009A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesKhanna, Hemant; Davis, Erica E.; Murga-Zamalloa, Carlos A.; Estrada, Alejandro; López, Irma; Hollander, Anneke I. den; Zonneveld, Marijke N.; Othman, Mohammad I.; Waseem, Naushin; Chakarova, Christina; Maubaret, Cecilia; Diaz-Font, Anna; MacDonald, Ian; Muzny, Donna M.; Wheeler, David A.; Morgan, Margaret; Lewis, Lora R.; Logan, Clare V.; Tan, Perciliz L.; Beer, Michael A.; Inglehearn, Christopher F.; Lewis, Richard A.; Jacobson, Samuel G.; Bergmann, Carsten; Beales, Philip L.; Attié-Bitach, Tania; Johnson, Colin A.; Otto, Edgar A.; Bhattacharya, Shom Shanker CSIC ORCID; Hildebrandt, Friedhelm; Gibbs, Richard A.; Koenekoop, Robert K.; Swaroop, Anand; Katsanis, Nicholasartículo
closedAccess2009A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesKhanna, Hemant; Bhattacharya, Shom Shanker CSIC ORCID; Katsanis, Nicholasartículo
closedAccessaccesoRestringido.pdf.jpg1-Apr-1992A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosaInglehearn, Christopher F.; Keen, T. Jeffrey; Bashir, Rumaisa; Jay, Marcelle; Fitzke, Fred W.; Bird, Alan C.; Crombie, Alex; Bhattacharya, Shom Shanker CSIC ORCIDartículo
openAccessARTICULOS315303[1].pdf.jpgJun-2002A Comprehensive Survey of Mutations in the OPA1 Gene in Patients with Autosomal Dominant Optic AtrophyThiselton, Dawn L.; Bhattacharya, Shom Shanker CSIC ORCID; Votruba, Marcelaartículo
closedAccess2001A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effectThiselton, Dawn L.; Bhattacharya, Shom Shanker CSIC ORCID; Votruba, Marcelaartículo
openAccessARTICULOS315807[1].pdf.jpg1985A genetic linkage study of a kindred with X-linked retinitis pigmentosaBhattacharya, Shom Shanker CSIC ORCID; Wright, Alan F.artículo
closedAccessaccesoRestringido.pdf.jpg1986A genetic linkage study of choroideremiaJay, Marcelle; Wright, Alan F.; Clayton, J. F.; Deans, M.; Dempster, M.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg1-Feb-1993A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosaRestagno, G.; Al-Maghtheh, Mai; Bhattacharya, Shom Shanker CSIC ORCID; Ferrone, M.; Garnerone, S.; Samuelly, R.; Carbonara, A.artículo
openAccessARTICULOS315059[1].pdf.jpgApr-2006A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of diseaseVithana, Eranga N.; Mantel, Irmela; Holder, Graham E.; Pelosini, Lucia; Bird, Alan C.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
closedAccessJan-1998A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneityInglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCIDartículo
closedAccess1996A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17pBerry, Vanita; Bhattacharya, Shom Shanker CSIC ORCID; Shiels, Alanartículo
closedAccessaccesoRestringido.pdf.jpgJan-1997A locus for autosomal dominant posterior polar cataract on chromosome 1pIonides, Alexander; Berry, Vanita; Mackay, Donna; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID; Shiels, Alanartículo