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Results 31-40 of 573 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2004De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyMcFarland, R.; Kirby, D.; Fowler, K.; Ohtake, A.; Ryan, M.; Amor, D.; Fletcher, J.; Dixon, J.; Collins, F.; Turnbull, D.; Taylor, R.; Thorburn, A.
2008Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birthJasper, M.; Liebelt, J.; Hussey, N.
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
2001Collocation of androgen receptor gene mutations in prostate cancerBuchanan, G.; Greenberg, N.; Scher, H.; Harris, J.; Marshall, V.; Tilley, W.
2006beta ig-h3 interacts directly with biglycan and decorin, promotes collagen VI aggregation, and participates in ternary complexing with these macromoleculesReinboth, B.; Thomas, J.; Hanssen, E.; Gibson, M.
2016EPHA2 mutations contribute to congenital cataract through diverse mechanismsDave, A.; Martin, S.; Kumar, R.; Craig, J.; Burdon, K.; Sharma, S.
1998Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2004Dynamic mutations on the move in BanffLa Spada, A.; Richards, R.; Wieringa, B.
2006Essential role for IL-10 in resistance to lipopolysaccharide-induced preterm labor in miceRobertson, S.; Skinner, R.; Care, A.