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Browsing by Author Clayton, P.T.

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Full TextIssue DateTitleAuthor(s)
2007An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).Salomons, G.S.; Bok, L.A.; Struys, E.A.; Pope, L.L.; Darmin, P.S., et al
2006Mutations in antiquitin in individuals with pyridoxine-dependent seizures.Mills, P.B.; Struys, E.A.; Jakobs, C.; Plecko, B.; Baxter, P., et al
2005A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.Wopereis, S.; Morava, E.; Grunewald, S.; Mills, P.B.; Winchester, B.G., et al
2005Identification of mutations in CUL7 in 3-M syndrome.Huber, C.; Dias-Santagata, D.; Glaser, A.; O'Sullivan, J.; Brauner, R., et al
2004Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).Schollen, E.; Frank, C.G.; Keldermans, L.; Reyntjens, R.; Grubenmann, C.E., et al
Showing results 1 to 5 of 5

 

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