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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.
2007The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 geneSchwartz, C.; Tarpey, P.; Lubs, H.; Verloes, A.; May, M.; Risheg, H.; Friez, M.; Futreal, P.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensin, R.; Joseph, S.; Jones, J.; Gecz, J.; Stratton, M.; Raymond, F.; Stevenson, R.
2012Dynamic mutations: where are they now?van Eyk, C.; Richards, R.; Hannan, A.
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.
2019Race in a genome: long read sequencing, ethnicity-specific reference genomes and the shifting horizon of raceKowal, E.; Llamas, B.
2016The role of JNK signalling in responses to oxidative DNA damageShaukat, Z.; Liu, D.; Hussain, R.; Khan, M.; Gregory, S.