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Results 1-10 of 13 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2012Reproductive technologies: the alchemy of lifeDavies, M.; Haan, E.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2012CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityVoineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
2010CP or not CP? A review of diagnoses in a cerebral palsy registerZarrinkalam, R.; Russo, R.; Gibson, C.; van Essen, P.; Peek, A.; Haan, E.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.