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Results 1-10 of 16 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Coexistence of Gaucher-Disease Type 1 and Joubert-SyndromeVan Royen-Kerkhof, A.; Pollthe, B.; Kleijer, W.; van Diggelen, O.; Aerts, J.; Hopwood, J.; Beemer, F.
1995Fragile X syndrome and other dynamic mutation diseasesSutherland, G.; Richards, R.
1997Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evidentWicking, C.; Shanley, S.; Smyth, I.; Gillies, S.; Negus, K.; Graham, S.; Suthers, G.; Haites, N.; Edwards, M.; Wainwright, B.; Chenevix Trench, G.
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
1998Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
1999X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisationWoffendin, H.; Jakins, T.; Jouet, M.; Stewart, H.; Landy, S.; Haan, E.; Harris, A.; Donnai, D.; Read, A.; Kenwrick, S.
1997The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesD'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E.; Bione, S.; Bolhuis, P.; Barth, P.; Wilson, M.; Haan, E.; Orstavik, H.; Patton, M.; Green, A.; Zammarchi, E.; Donati, M.; Toniolo, D.
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.
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.