Search


Current filters:

Start a new search
Add filters:

Use filters to refine the search results.


Results 1-10 of 16 (Search time: 0.004 seconds).
Item hits:
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.
2001Glucose-regulated insulin expression in diabetic ratsBarry, S.; Ramesh, N.; Lejnieks, D.; Simonson, W.; Kemper, L.; Lernmark, A.; Osborne, W.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
1998Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeYamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
2009In Vitro Differentiation of Human Calvarial Suture Derived Cells With and Without Dexamethasione Does Not Induce In Vivo-Like ExpressionCoussens, A.; Hughes, I.; Morris, C.; Powell, B.; Anderson, P.
2016X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesHu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al.
2015HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
2007Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosisAnderson, P.; Cox, T.; Roscioli, T.; Elakis, G.; Smithers, L.; David, D.; Powell, B.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.