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PreviewIssue DateTitleAuthor(s)
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
2002The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatmentGaustadnes, M.; Wilcken, B.; Oliveriusova, J.; McGill, J.; Fletcher, J.; Kraus, J.; Wilcken, D.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.

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