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Results 51-58 of 58 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
1995FRAXE and mental retardationMulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2003Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsWallace, R.; Hodgson, B.; Grinton, B.; Gardiner, R.; Robinson, R.; Rodriguez-Casero, V.; Sadleir, L.; Morgan, J.; Harkin, L.; Dibbens, L.; Yamamoto, T.; Andermann, E.; Mulley, J.; Berkovic, S.; Scheffer, I.
2006A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1AMulley, J.; Nelson, P.; Guerrero, S.; Dibbens, L.; Iona, X.; McMahon, J.; Harkin, L.; Schouten, J.; Yu, S.; Berkovic, S.; Scheffer, I.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.
1999Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardationGecz, J.; Barnett, S.; Liu, J.; Hollway, G.; Donnelly, A.; Eyre, H.; Eshkevari, H.; Baltazar, R.; Grunn, A.; Nagaraja, R.; Gilliam, C.; Peltonen, L.; Sutherland, G.; Baron, M.; Mulley, J.
1997Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activatorsGecz, J.; Bielby, S.; Sutherland, G.; Mulley, J.
2003Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyMcLellan, A.; Phillips, H.; Rittey, C.; Kirkpatrick, M.; Mulley, J.; Goudie, D.; Stephenson, J.; Tolmie, J.; Scheffer, I.; Berkovic, S.; Zuberi, S.

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