|
|
DSpace at RU >
Browsing by Author Zweier, C.
Showing results 1 to 7 of 7
| Full Text | Issue Date | Title | Author(s) | | 2011 | Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. | Dauwerse, J.G.; Dixon, J.; Seland, S.; Ruivenkamp, C.A.; Haeringen, A. van, et al |
| 2009 | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. | Walle, J. van de; Esch, H. van; Govaerts, K.; Verbeeck, J.; Zweier, C., et al |
| 2009 | CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. | Zweier, C.; Jong, E.K. de; Zweier, M.; Orrico, A.; Ousager, L.B., et al |
| 2009 | New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. | Heinritz, W.; Huffmeier, U.; Strenge, S.; Miterski, B.; Zweier, C., et al |
| 2008 | Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. | Rauch, A.; Thiel, C.T.; Schindler, D.; Wick, U.; Crow, Y.J., et al |
| 2008 | Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. | Zweier, C.; Sticht, H.; Bijlsma, E.K.; Clayton-Smith, J.; Boonen, S., et al |
| 2007 | SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | Zenker, M.; Horn, D.; Wieczorek, D.; Allanson, J.; Pauli, S., et al |
Showing results 1 to 7 of 7
|