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Results 1-10 of 17 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesHackett, A.; Tarpey, P.; Licata, A.; Cox, J.; Whibley, A.; Boyle, J.; Rogers, C.; Grigg, J.; Partington, M.; Stevenson, R.; Tolmie, J.; Yates, J.; Turner, G.; Wilson, M.; Futreal, P.; Corbett, M.; Shaw, M.; Gecz, J.; Raymond, F.; Stratton, M.
2010Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationRujirabanjerd, S.; Nelson, J.; Tarpey, P.; Hackett, A.; Edkins, S.; Raymond, F.; Schwartz, C.; Turner, G.; Iwase, S.; Shi, Y.; Futreal, P.; Stratton, M.; Gecz, J.
2010PHF6 mutations in T-cell acute lymphoblastic leukemiaVan Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
2010Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X)Fullston, T.; Brueton, L.; Willis, T.; Philip, S.; MacPherson, L.; Finnis, M.; Gecz, J.; Morton, J.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2010Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismLaumonnier, F.; Shoubridge, C.; Antar, C.; Nguyen, L.; Van Esch, H.; Kleefstra, T.; Briault, S.; Fryns, J.; Hamel, B.; Chelly, J.; Ropers, H.; Ronce, N.; Blesson, S.; Moraine, C.; Gecz, J.; Raynaud, M.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.