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PreviewIssue DateTitleAuthor(s)
2001Fragile X SyndromeSutherland, G.; Richards, R.
2001Dynamic mutationsRichards, R.; Sutherland, G.
2001Karyotypes found in the population declared at increased risk of Down Syndrome following maternal serum screeningRyall, R.; Callen, D.; Cocciolone, R.; Duvnjak, A.; Esca, R.; Frantzis, N.; Gjerde, E.; Haan, E.; Hocking, T.; Sutherland, G.; Thomas, D.; Webb, F.
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.
2001Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plusWallace, R.; Scheffer, I.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G.; George Jr., A.; Mulley, J.; Berkovic, S.
2001Mutant GABAA receptor g2-subunit in childhood absence epilepsy and febrile seizuresWallace, R.; Marini, C.; Petrou, S.; Harkin, L.; Bowser, D.; Panchal, R.; Williams, D.; Sutherland, G.; Mulley, J.; Scheffer, I.; Berkovic, S.
2001Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia proteinKremmidiotis, G.; Gardner, A.; Settasatian, C.; Savoia, A.; Sutherland, G.; Callen, D.