|
|
DSpace at RU >
Browsing by Author Clayton, P.T.
Showing results 1 to 5 of 5
| Full Text | Issue Date | Title | Author(s) | | 2007 | An 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 |
| 2006 | Mutations in antiquitin in individuals with pyridoxine-dependent seizures. | Mills, P.B.; Struys, E.A.; Jakobs, C.; Plecko, B.; Baxter, P., et al |
| 2005 | A 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 |
| 2005 | Identification of mutations in CUL7 in 3-M syndrome. | Huber, C.; Dias-Santagata, D.; Glaser, A.; O'Sullivan, J.; Brauner, R., et al |
| 2004 | Clinical 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
|