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Results 11-20 of 134 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Brain cysts associated with mutation in the Aristaless related homeobox gene, ARXStromme, P.; Bakke, S.; Dahl, A.; Gecz, J.
1999Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1Villard, L.; Briault, S.; Lossi, A.M.; Paringaux, C.; Belougne, J.; Colleaux, L.; Pincus, D.; Woollatt, E.; Lespinasse, J.; Munnich, A.; Moraine, C.; Fontes, M.; Gecz, J.
1999A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardationMerienne, K.; Jacquot, S.; Pannetier, S.; Zeniou, M.; Bankier, A.; Gecz, J.; Mandel, J.L.; Mulley, J.; Sassone-Corsi, P.; Hanauer, A.
2021Cerebral palsy with autism and ADHD: time to pay attentionGecz, J.; Berry, J.G.
2016New insights into Brunner syndrome and potential for targeted therapyPalmer, E.; Leffler, M.; Rogers, C.; Shaw, M.; Carroll, R.; Earl, J.; Cheung, N.; Champion, B.; Hu, H.; Haas, S.; Kalscheuer, V.; Gecz, J.; Field, M.
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.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
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.