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Results 1-10 of 26 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Fragile X Syndrome and other X-linked Causes of Mental HandicapSutherland, G.; Mulley, J.
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.
1997Short report on DNA marker at candidate locus. SSCP variants within the a4 subunit of the neuronal nicotinic acetylcholine receptor genePhillips, H.; Mulley, J.
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.
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.
1996Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)Gedeon, A.; Turner, G.; Mulley, J.
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; Mulley, J.
1996Regional localisation of two non-specific X-linked mental retardation genes (MRX 30 and MRX 31)Donnelly, A.; Partington, M.; Ryan, A.; Mulley, J.
1996How many X-linked genes for non-specific mental retardation (MRX) are there?Gedeon, A.; Donnelly, A.; Mulley, J.; Kerr, B.; Turner, G.
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.

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