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American Journal of Human Genetics|September 16, 1999
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutationS D Whatley, H Puy, R R Morgan, et al.Atherosclerosis|March 24, 2015
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in WalesK Haralambos, S D Whatley, R Edwards, et al.Human Molecular Genetics|November 13, 1998
Molecular characterization of homozygous variegate porphyriaA G Roberts, H Puy, T A Dailey, et al.The Journal of Investigative Dermatology|November 9, 2000
Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tardaJ J Brady, H A Jackson, A G Roberts, et al.Journal of Medical Genetics|September 27, 2005
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patientsH L Archer, S D Whatley, J C Evans, et al.Pageof 3