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Results 1-10 of 18 (Search time: 0.008 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
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.
1998Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2y: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.Schollen, E.; Pardon, E.; Heykants, L.; Renard, J.P.; Doggett, N.; Callen, D.; Cassiman, J.J.; Matthijs, G.
1996Characterization of the dead ringer Gene Identifies a Novel, Highly Conserved Family of Sequence-Specific DNA-Binding ProteinsGregory, S.; Kortschak, R.; Kalionis, B.; Saint, R.
1999Isolation and characterisation of a cDNA encoding a Zona Pellucida Protein (ZPB) from the marsupial Trichosurus vulpecula (Brushtail Possum)Haines, B.; Rathjen, P.; Hope, R.; Whyatt, L.; Holland, M.; Breed, W.
2013The Guinea Pig as a model for sporadic Alzheimer's Disease (AD): the impact of cholesterol intake on expression of AD-related genesSharman, M.; Moussavi Nik, S.; Chen, M.; Ong, D.; Wijaya, L.; Laws, S.; Taddei, K.; Newman, M.; Lardelli, M.; Martins, R.; Verdile, G.; Götz, J.
1999Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientGecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.