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Results 1-10 of 63 (Search time: 0.022 seconds).
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PreviewIssue DateTitleAuthor(s)
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, 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.
2005XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneStepp, M.; Cason, A.; Finnis, M.; Mangelsdorf, M.; Holinski-Feder, E.; Macgregor, D.; MacMillan, A.; Holden, J.; Gecz, J.; Stevenson, R.; Schwartz, C.
2003Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiencyBirrell, G.; Lampe, A.; Richmond, S.; Bruce, S.; Gecz, J.; Lower, K.; Wright, M.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.
2000Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndromeVillard, L.; Fontes, M.; Ades, L.; Gecz, J.
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionFroyen, G.; Bauters, M.; Boyle, J.; Van Esch, H.; van Bokhoven, H.; Ropers, H.; Moraine, C.; Chelly, J.; Fryns, J.; Marynen, P.; Gecz, J.; Turner, G.