Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.


Results 31-40 of 119 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2002ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationBienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
2003Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationKalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al.
2012Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disabilityNguyen, L.; Jolly, L.; Shoubridge, C.; Chan, W.; Huang, L.; Laumonnier, F.; Raynaud, M.; Hackett, A.; Field, M.; Rodriguez, J.; Srivastava, A.; Lee, Y.; Long, R.; Addington, A.; Rapaport, J.; Suren, S.; Hahn, C.; Gamble, J.; Wilkinson, M.; Corbett, M.; et al.
2007Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyCavalleri, G.; Weale, M.; Shianna, K.; Singh, R.; Lynch, J.; Grinton, B.; Szoeke, C.; Murphy, K.; Kinirons, P.; O'Rourke, D.; Ge, D.; Depondt, C.; Claeys, K.; Pandolfo, M.; Gumbs, C.; Walley, N.; McNamara, J.; Mulley, J.; Linney, K.; Sheffield, L.; et al.
2012KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathyWeckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortEggers, S.; Sadedin, S.; van den Bergen, J.; Robevska, G.; Ohnesorg, T.; Hewitt, J.; Lambeth, L.; Bouty, A.; Knarston, I.; Tan, T.; Cameron, F.; Werther, G.; Hutson, J.; O'Connell, M.; Grover, S.; Heloury, Y.; Zacharin, M.; Bergman, P.; Kimber, C.; Brown, J.; et al.
2010Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationLugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.; Oudakker, A.; Kjaergaard, S.; Vianna-Morgante, A.; Kleefstra, T.; Ruiter, M.; Jehee, F.; Ullmann, R.; Schwartz, C.; Stratton, M.; Raymond, F.; Veltman, J.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.; Hehir-Kwa, J.; Froyen, G.; et al.
2010Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityShoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al.
2016The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantKoolen, D.; Pfundt, R.; Linda, K.; Beunders, G.; Veenstra-Knol, H.; Conta, E.; Fortuna, A.; Gillessen-Kaesbach, G.; Dugan, S.; Halbach, S.; Abdul-Rahman, O.; Winesett, H.; Chung, W.; Dalton, M.; Dimova, P.; Mattina, T.; Prescott, K.; Zhang, H.; Saal, H.; Hehir-Kwa, J.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.