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Results 1-10 of 52 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Genomic structure and complete nucleotide sequence of the Batten Disease Gene, CLN3Mitchison, H.; Munroe, P.; O'Rawe, A.; Taschner, P.; De Vos, N.; Kremmidiotis, G.; Lensink, I.; Munk, A.; D'Arigo, K.; Anderson, J.; Lerner, T.; Moyzis, R.; Callen, D.; Breuning, M.; Doggett, N.; Gardiner, R.; Mole, S.
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.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
1996Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)Gedeon, A.; Turner, G.; Mulley, J.
1998Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3Centola, M.; Chen, X.; Sood, R.; Deng, Z.; Aksentijevich, I.; Blake, T.; Ricke, D.; Chen, X.; Wood, G.; Zaks, N.; Richards, N.; Krizman, D.; Mansfield, E.; Apostolou, S.; Liu, J.; Shafran, N.; Vedula, A.; Hamon, M.; Cercek, A.; Kahan, T.; et al.
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; 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.
1995X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeGedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.

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