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Browsing by Author Bhattacharya, Shom Shanker

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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; Rodríguez-Pérez, Juan Antonio ; Daub, Josephine T.; Muntané, Gerard; Ruiz-Ferrer, Macarena; Méndez-Vidal, Cristina ; Bhattacharya, Shom Shanker ; Borrego, Salud ; Antiñolo, Guillermo artículo
closedAccess1994A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa familyAl-Maghtheh, Mai; Kim, R.Y.; Hardcastle, Alison; Inglehearn, Christopher F.; Bhattacharya, Shom Shanker artículo
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 artículo
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 ; Moore, Anthony T.artículo
openAccessARTICULOS315265[1].pdf.jpgJul-2003A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British familiesEl-Ashry, Mohamed F.; Bhattacharya, Shom Shanker ; Ebenezer, Neil D.artículo
closedAccess2009A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesKhanna, Hemant; Bhattacharya, Shom Shanker ; Katsanis, Nicholasartículo
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 ; 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 ; Votruba, Marcelaartículo
openAccessARTICULOS315807[1].pdf.jpg1985A genetic linkage study of a kindred with X-linked retinitis pigmentosaBhattacharya, Shom Shanker ; Wright, Alan F.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 artículo
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 artículo
closedAccess1996A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17pBerry, Vanita; Bhattacharya, Shom Shanker ; Shiels, Alanartículo
closedAccessMay-1998A Locus for Autosomal Recessive Congenital Microphthalmia Maps to Chromosome 14q32Bessant, David A. R.; Bhattacharya, Shom Shanker artículo
closedAccess2002A locus for isolated cataract on human XpFrancis, Peter J.; Bhattacharya, Shom Shanker artículo
closedAccess2002A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 geneAung, Tin; Bhattacharya, Shom Shanker artículo
openAccessgm363.pdf.jpg24-Aug-2012A map of human microRNA variation uncovers unexpectedly high levels of variabilityCarbonell, José; Alloza, Eva; Arce, Pablo; Borrego, Salud ; Santoyo, Javier; Ruiz-Ferrer, Macarena; Medina, Ignacio; Jiménez-Almazán, Jorge; Méndez-Vidal, Cristina ; González-del Pozo, María; Vela, Alicia; Bhattacharya, Shom Shanker ; Antiñolo, Guillermo ; Dopazo, Joaquínartículo
closedAccessMar-1998A Missense Mutation in the Human Connexin50 Gene (GJA8) Underlies Autosomal Dominant “Zonular Pulverulent” Cataract, on Chromosome 1qShiels, Alan; Bhattacharya, Shom Shanker artículo
closedAccess1998A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1Payne, Annette M.; Bhattacharya, Shom Shanker artículo
closedAccess1999A mutation in NRL is associated with autosomal dominant retinitis pigmentosaBessant, David A. R.; Bhattacharya, Shom Shanker artículo
closedAccess1998A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21Inglehearn, Christopher F.; Bhattacharya, Shom Shanker artículo