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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2013Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGHNicholl, J.; Waters, W.; Suwalski, S.; Brown, S.; Hull, Y.; Harbord, M.; Entwistle, J.; Thompson, S.; Clark, D.; Pridmore, C.; Haan, E.; Barnett, C.; McGregor, L.; Liebelt, J.; Thompson, E.; Friend, K.; Bain, S.; Yu, S.; Mulley, J.
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.
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.
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.
2013Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patientsRoscioli, T.; Haan, E.; Thompson, E.; David, D.; Anderson, P.
1997Mutation detection in FGFR2 craniosynostosis syndromesHollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J.
2011Lung disease associated with periventricular nodular heterotopia and an FLNA mutationMasurel-Paulet, A.; Haan, E.; Thompson, E.; Goizet, C.; Thauvin-Robinet, C.; Tai, A.; Kennedy, J.; Smith, G.; Khong, T.; Sole, G.; Guerineau, E.; Coupry, I.; Huet, F.; Robertson, S.; Faivre, L.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
2011TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesAndreucci, E.; Aftimos, S.; Alcausin, M.; Haan, E.; Hunter, W.; Kannu, P.; Kerr, B.; McGillivray, G.; McKinlay Gardner, R.; Patricelli, M.; Sillence, D.; Thompson, E.; Zacharin, M.; Zankl, A.; Lamande, S.; Savarirayan, R.