Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 26 (Search time: 0.005 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
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.
1998Gene localisation for an autosomal dominant familial periodic fever to 12p13.Mulley, J.; Saar, K.; Hewitt, G.; Rueschendorf, F.; Phillips, H.; Colley, A.; Sillence, D.; Reis, A.; Wilson, M.
1995Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boysGedeon, A.; Keinanen, M.; Ades, L.; Kaarianen, H.; Gecz, J.; Baker, E.; Sutherland, G.; Mulley, J.
1996Fragile X Syndrome and other X-linked Causes of Mental HandicapSutherland, G.; Mulley, J.
1995X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeGedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.
1998Deafness due to Pro250Arg mutation of FGFR3Hollway, G.; Suthers, G.; Battese, K.; Turner, A.; David, D.; Mulley, J.
1997Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activatorsGecz, J.; Bielby, S.; Sutherland, G.; Mulley, J.
1998Polymorphic variants within the homeobox gene MSX1: a candidate gene for developmental disorders.Hollway, G.; Mulley, J.