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Results 111-120 of 142 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2003Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneDavis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.
2009SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosisMarini, C.; Scheffer, I.; Nabbout, R.; Mei, D.; Cox, K.; Dibbens, L.; McMahon, J.; Iona, X.; Carpintero, R.; Elia, M.; Cilio, M.; Specchio, N.; Giordano, L.; Striano, P.; Genarro, E.; Cross, J.; Kivity, S.; Neufeld, M.; Afawi, Z.; Andermann, E.; et al.
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.
2005CD molecules 2005: human cell differentiation moleculesZola, H.; Swart, B.; Nicholson, I.; Aasted, B.; Bensussan, A.; Boumsell, L.; Buckley, C.; Clark, G.; Drbal, K.; Engel, P.; Hart, D.; Horejsi, V.; Isacke, C.; Macardle, P.; Malavasi, F.; Mason, D.; Olive, D.; Saalmueller, A.; Schlossman, S.; Schwartz-Albiez, R.; et al.
2007Behavioral and emotional problems reported by parents of children ages 6 to 16 in 31 societiesRescorla, L.; Achenbach, T.; Ivanova, M.; Dumenci, L.; Almqvist, F.; Bilenberg, N.; Bird, H.; Chen, W.; Dobrean, A.; Dopfner, M.; Erol, N.; Fombonne, E.; Fonseca, A.; Frigerio, A.; Grietens, H.; Hannesdottir, H.; Kanbayashi, Y.; Lambert, M.; Larsson, B.; Leung, P.; et al.
2014IFPA Meeting 2013 Workshop Report I: diabetes in pregnancy, maternal dyslipidemia in pregnancy, oxygen in placental development, stem cells and pregnancy pathologyAbumaree, M.; Alahari, S.; Albrecht, C.; Aye, I.; Bainbridge, S.; Chauvin, S.; Clifton, V.; Desoye, G.; Ermini, L.; Giuffrida, D.; Graham, C.; Huang, Q.; Kalionis, B.; Lager, S.; Leach, L.; Li, Y.; Litvack, M.; Nuzzo, A.; Moretto-Zita, M.; O'Tierney-Ginn, P.; et al.
2022Management of paediatric acute severe behavioural disturbance in emergency departments across Australia: A PREDICT survey of senior medical staffBourke, E.M.; Knott, J.C.; Craig, S.; Babl, F.E.; Babl, F.; Beattie, A.; Borland, M.; Bourke, E.; Buntine, P.; Craig, S.; Gamage, L.; George, S.; Ghedina, N.; Furyk, J.; Halkidis, L.; Hort, J.; King, A.; Kochar, A.; Lithgow, A.; McKenzie, B.; 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.