Showing results (1-10 of 27) with videos related to
Sort By:
Pageof 3
Genetic Testing|July 26, 2008
Multiple de novo mutations in the MECP2 geneDavid J Bunyan, David O RobinsonClinical Neurology and Neurosurgery|March 25, 2008
A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP)Eleanor A Marsh, David O RobinsonHuman Genetics|November 19, 2002
A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genesXiayi Ke, N Simon Thomas, David O Robinson, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|December 4, 2002
The distinguishing sequence characteristics of mouse imprinted genesXiayi Ke, N Simon Thomas, David O Robinson, et al.Neuromuscular Disorders : NMD|February 14, 2007
Siblings with recessive oculopharyngeal muscular dystrophySrisha Hebbar, Michael J Webberley, Peter Lunt, et al.Orbit (Amsterdam, Netherlands)|September 22, 2006
Towards an understanding of congenital ptosisTristan F W McMullan, David O Robinson, Anthony G TyersHuman Genetics|January 13, 2005
Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanismDavid O Robinson, Simon R Hammans, Steven P Read, et al.Human Genetics|January 7, 2005
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiologyDeborah J G Mackay, I Karen Temple, Julian P H Shield, et al.Genetic Testing and Molecular Biomarkers|August 20, 2011
Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancerZandra C Deans, Justyna Tull, Gemma Beighton, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 16, 2007
Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24Tatjana Milenkovic, Jelena Martic, David O Robinson, et al.Pageof 3