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Journal of Medical Genetics|August 2, 2018
Use of zebrafish models to investigate rare human diseaseKathryn Isabel Adamson, Eamonn Sheridan, Andrew James GriersonNature|April 5, 2002
A global disorder of imprinting in the human female germ lineHannah Judson, Bruce E Hayward, Eamonn Sheridan, et al.American Journal of Human Genetics|April 13, 2004
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndromeMichel De Vos, Bruce E Hayward, Susan Picton, et al.European Journal of Pediatrics|May 4, 2007
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literatureShelagh K Joss, Sam Ghazawy, Susan Tomkins, et al.Journal of Medical Genetics|April 13, 2022
Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variantChristopher Mark Watson, Lucy Jackson, Laura A Crinnion, et al.Human Mutation|May 1, 2009
IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited diseaseIan M Carr, Eamonn Sheridan, Bruce E Hayward, et al.Human Mutation|October 21, 2009
Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disordersIan M Carr, Katarzyna Szymanska, Eamonn Sheridan, et al.Journal of Medical Genetics|June 24, 2020
Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethalityMarilena Elpidorou, Sunayna Best, James A Poulter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Videoconferencing to deliver genetics services: a systematic review of telegenetics in light of the COVID-19 pandemicElizabeth G Brown, Isabella Watts, Emily R Beales, et al.Ophthalmology|June 9, 2009
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?David F Gilmour, Louise M Downey, Eamonn Sheridan, et al.Pageof 8