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Results 1-10 of 11 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(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.
1998Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discsCallaghan, M.; Russell, A.; Woollatt, E.; Sutherland, G.; Sutherland, R.; Watts, C.
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.
1998Protein synthesis and secretion by the epididymis of the brushtail possum, Trichosurus vulpeculaLamont, A.; Clarke, H.; Cooper, N.; Holland, M.; Breed, W.
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
1998A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.Town, M.; Jean, G.; Cherqui, S.; Attard, M.; Forestier, L.; Whitmore, S.; Callen, D.; Gribouval, O.; Broyer, M.; Bates, G.; van't Hoff, W.; Antignac, C.
1998Characterization and chromosome location of the gene GSTZ1 encoding the human Zeta class glutathione transferase and maleylacetoacetate isomeraseBlackburn, A.; Woollatt, E.; Sutherland, G.; Board, P.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.
1998Receptor Mediated Binding of Two Glycosylation Forms of N-Acetylgalactosamine-4-SulphataseFuller, M.; Hopwood, J.; Anson, D.
1998The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.Kortschak, R.; Reimann, H.; Zimmer, M.; Eyre, H.; Saint, R.; Jenne, D.