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Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 13-ene-2016 | 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation | Dopazo, 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 ORCID | artículo |
closedAccess | | 1994 | A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family | Al-Maghtheh, Mai; Kim, Robert Y.; Hardcastle, Alison; Inglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
openAccess | | ene-1991 | A 3-bp Deletion in the Rhodopsin Gene in a Family with Autosomal Dominant Retinitis Pigmentosa | Inglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | 29-ago-1987 | A case of disputed maternity | Roberts, D. F.; Papiha, S. S.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
openAccess | | feb-2003 | A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma | Reddy, M.A.; Bhattacharya, Shom Shanker CSIC ORCID; Moore, Anthony T. | artículo |
closedAccess | | 2005 | A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in british population | El-Ashry, Mohamed F.; Abd El-Aziz, Mai M.; Hardcastle, Alison; Bhattacharya, Shom Shanker CSIC ORCID; Ebenezer, Neil D. | artículo |
closedAccess | | ene-2007 | A 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 ORCID | artículo |
openAccess | | jul-2003 | A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families | El-Ashry, Mohamed F.; Bhattacharya, Shom Shanker CSIC ORCID; Ebenezer, Neil D. | artículo |
closedAccess | | 2009 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Khanna, Hemant; Bhattacharya, Shom Shanker CSIC ORCID; Katsanis, Nicholas | artículo |
closedAccess | | jun-2009 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Khanna, 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, Nicholas | artículo |
closedAccess | | 1-abr-1992 | A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa | Inglehearn, Christopher F.; Keen, T. Jeffrey; Bashir, Rumaisa; Jay, Marcelle; Fitzke, Fred W.; Bird, Alan C.; Crombie, Alex; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
openAccess | | jun-2002 | A Comprehensive Survey of Mutations in the OPA1 Gene in Patients with Autosomal Dominant Optic Atrophy | Thiselton, Dawn L.; Bhattacharya, Shom Shanker CSIC ORCID; Votruba, Marcela | artículo |
closedAccess | | 2001 | A 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 effect | Thiselton, Dawn L.; Bhattacharya, Shom Shanker CSIC ORCID; Votruba, Marcela | artículo |
openAccess | | 1985 | A genetic linkage study of a kindred with X-linked retinitis pigmentosa | Bhattacharya, Shom Shanker CSIC ORCID; Wright, Alan F. | artículo |
closedAccess | | 1986 | A genetic linkage study of choroideremia | Jay, Marcelle; Wright, Alan F.; Clayton, J. F.; Deans, M.; Dempster, M.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | 1-feb-1993 | A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa | Restagno, G.; Al-Maghtheh, Mai; Bhattacharya, Shom Shanker CSIC ORCID; Ferrone, M.; Garnerone, S.; Samuelly, R.; Carbonara, A. | artículo |
openAccess | | abr-2006 | A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease | Vithana, Eranga N.; Mantel, Irmela; Holder, Graham E.; Pelosini, Lucia; Bird, Alan C.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | ene-1998 | A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity | Inglehearn, Christopher F.; Bhattacharya, Shom Shanker CSIC ORCID | artículo |
closedAccess | | 1996 | A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p | Berry, Vanita; Bhattacharya, Shom Shanker CSIC ORCID; Shiels, Alan | artículo |
closedAccess | | ene-1997 | A locus for autosomal dominant posterior polar cataract on chromosome 1p | Ionides, Alexander; Berry, Vanita; Mackay, Donna; Moore, Anthony T.; Bhattacharya, Shom Shanker CSIC ORCID; Shiels, Alan | artículo |