Browsing by Author Amor, David

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Issue DateTitleAuthor(s)Citation
2006Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.Billson, FranK; Grigg, John; Haywood, Ashley; Jamieson, Robyn; Mihelec, Marija; Nolen, Leisha; Tam, Patrick; Willcock, Christopher; Amor, David; Peters, Greg; St. Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Save Sight & Eye Health Inst.; Children's Hospital Westmead: Childrens Medical Research Ins; Clinical SchoolsDeletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies., American journal of medical genetics Part A, vol.140,(16),2006,pp 1711-1718
2011Mutations in TRPV4 cause an inherited arthropathy of hands and feetLittle, Christopher; Amor, David; Bateman, John; Belluoccio, Daniele; Botzenhart, Elke; Cole, William; Gresshoff, Irma; Kaluarachchi, Kumara; Lamande, Shireen R.; McIntyre, Peter; Rowley, Lynn; Savarirayan, Ravi; Yuan, Yuan; Zerres, Klaus; Northern Clinical School: Kolling InstituteMutations in TRPV4 cause an inherited arthropathy of hands and feet, Nature Genetics, vol.43, 11, 2011,pp 1142-1146
2013RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous MalformationCollins, Felicity; Amor, David; Baselga, Eulalia; Boon, Laurence M.; Clapuyt, Philippe; Cordisco, Maria Rosa; Dompmartin, Anne; Dubois, Josee; et al, Various; Hammer, Frank; Irvine, Alan; Mendola, Antonella; Revencu, Nicole; Children's Hospital Westmead: Paediatrics & Child HealthRASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation, Human Mutation, vol.34, 12, 2013,pp 1632-1641