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Results 21-30 of 41 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1997Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneSampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.
2009Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2Ghalamkarpour, A.; Debauche, C.; Haan, E.; Van Regemorter, N.; Snzajer, Y.; Thomas, D.; Revencu, N.; Gillerot, Y.; Boon, L.; Vikkula, M.
2008Self-Esteem, Self-Concept, and Quality of Life in Children with Hemiplegic Cerebral PalsyRusso, R.; Goodwin, E.; Miller, M.; Haan, E.; Connell, T.; Crotty, M.
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.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
2003X-linked myotubular myopathy in a family with three adult survivorsYu, S.; Manson, J.; White, S.; Bourne, A.; Waddy, H.; Davis, M.; Haan, E.
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
2005Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancyPayne, J.; Elliott, E.; D'Antoine, H.; O'Leary, C.; Mahony, A.; Haan, E.; Bower, C.
2005Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature reviewYu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.