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Human Molecular Genetics|November 22, 2002
Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocationsAndrew J Sharp, Hugh T Spotswood, David O Robinson, et al.Neuromuscular Disorders : NMD|July 12, 2011
Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutationDavid O Robinson, David Hilton-Jones, David Mansfield, et al.BMC Cancer|March 28, 2006
Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriersEllen R Copson, Helen E White, Jeremy P Blaydes, et al.European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie|April 21, 2012
The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndromeShakeel M Rahman, Nigel J Hall, John A Crolla, et al.American Journal of Medical Genetics. Part A|February 5, 2008
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridiaDavid O Robinson, Rachel J Howarth, Kathleen A Williamson, et al.American Journal of Medical Genetics. Part A|July 18, 2009
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6Marco Castori, Luana Barboni, Philippa J Duncan, et al.Human Genetics|April 6, 2002
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocationTristan W McMullan, John A Crolla, Simon G Gregory, et al.Genetic Testing|October 6, 2006
Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and IrelandSimon C Ramsden, Zandra Deans, David O Robinson, et al.Molecular Biotechnology|April 17, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin geneDavid J Bunyan, Alison C Skinner, Emma J Ashton, et al.Journal of Cardiovascular Translational Research|September 8, 2012
Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approachesJames S Ware, Shibu John, Angharad M Roberts, et al.Pageof 3