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Results 1-10 of 91 (Search time: 0.008 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) SyndromeWhite, S.; Thompson, E.; Kidd, A.; Savarirayan, R.; Turner, A.; Amor, D.; Delatycki, M.; Fahey, M.; Baxendale, A.; White, S.; Haan, E.; Gibson, K.; Halliday, J.; Bankier, A.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2009SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSpurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M.
2015Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disabilityGrozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.
2003Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationKalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J.
2013RPGR mutations might cause reduced orientation of respiratory ciliaBukowy-Blerytto, Z.; Zletkiewicz, E.; Loges, N.; Wittmer, M.; Geremek, M.; Olbrich, H.; Filegauf, M.; Voelkel, K.; Rutkiewicz, E.; Rutland, J.; Morgan, L.; Pogorzelski, A.; Martin, A.; Haan, E.; Berger, W.; Omran, H.; Witt, M.
2004Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationTeber, O.; Gillessen-Kaesbach, G.; Fischer, S.; Bohringer, S.; Albrecht, B.; Albert, A.; Arslan-Kirchner, M.; Haan, E.; Hagedorn-Greiwe, M.; Hammans, C.; Henn, W.; Hinkel, G.; Konig, R.; Kunstmann, E.; Kunze, J.; Neumann, L.; Prott, E.; Rauch, A.; Rott, H.; Seidel, H.; et al.
2002Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomaliesBaker, E.; Hinton, L.; Callen, D.; Altree, M.; Dobbie, A.; Eyre, H.; Sutherland, G.; Thompson, E.; Thompson, P.; Woollatt, E.; Haan, E.
2003PEHO and PEHO-like syndromes: Report of five Australian casesField, M.; Grattan-Smith, P.; Piper, S.; Thompson, E.; Haan, E.; Edwards, M.; James, S.; Wilkinson, I.; Ades, L.