Browsing by Author Turnpenny, P. D.

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Issue DateTitleAuthor(s)Citation
2006Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.Sillence, David; Chapman, Gavin; Dunwoodie, Sally; Ellard, S.; Fatkin, Diane; Kusumi, K.; Sparrow, D. B.; Turnpenny, P. D.; Whittock, N. V.; Wouters, Merridee A.; Childrens Hospital Westmead: Paediatrics & Child HealthMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype., The American Journal of Human Genetics, vol.78, 1, 2006,pp N/A-N/A
2006Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.Sillence, David; Chapman, Gavin; Dunwoodie, Sally; Ellard, S.; Fatkin, Diane; Kusumi, K.; Sparrow, D. B.; Turnpenny, P. D.; Whittock, N. V.; Wouters, Merridee A.; Childrens Hospital Westmead: Paediatrics & Child HealthMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype., The American Journal of Human Genetics, vol.78, 1, 2006,pp N/A-N/A
2012Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12ValCharlton, Amanda; Wilson, Meredith; Bradley, Lisa; Burkitt Wright, Emma; D'Amore, Angela; Firth, Helen; Gannon, Caroline; Kerr, Bronwyn; McConnell, Vivienne; Munyard, Paul; Park, Soo-Mi; Shorto, Jennifer; Turnpenny, P. D.; Plant Breeding Institute; Children's Hospital Westmead: Paediatrics & Child HealthNeonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val, American Journal of Medical Genetics. Part A, vol.158A, 5, 2012,pp 1102-1110
2010Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.Sillence, David; Dunwoodie, S. L.; Sparrow, D. B.; Turnpenny, P. D.; Wouters, Merridee A.; Children's Hospital Westmead: Paediatrics & Child HealthTwo novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis., European Journal of Human Genetics, vol.18, 6,pp 674-679