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Results 1-9 of 9 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Fragile X syndrome and other dynamic mutation diseasesSutherland, G.; Richards, R.
1997Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromesByatt, S.; Baker, E.; Richards, R.; Roberts, C.; Smith, A.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
1998CAG repeat expansion in autosomal dominant familial spastic paraparesis - novel expansion in a subset of patientsBenson, K.; Horwitz, M.; Wolff, J.; Friend, K.; Thompson, E.; White, S.; Richards, R.; Raskind, W.; Bird, T.
1997Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2Horwitz, M.; Benson, K.; Li, F.Q.; Wolff, J.; Leppert, M.; Hobson, L.; Mangelsdorf, M.; Yu, S.; Hewett, D.; Richards, R.; Raskind, W.
1995Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locusNancarrow, J.; Holman, K.; Hori, T.; Denton, M.; Sutherland, G.; Richards, R.
1995Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2Jones, C.; Penny, L.; Mattina, T.; Yu, S.; Baker, E.; Voullaire, L.; Langdon, W.; Sutherland, G.; Richards, R.; Tunnacliffe, A.
1995FRAXE and mental retardationMulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.