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Browsing by Author Zweier, C.

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Showing results 1 to 7 of 7
Full TextIssue DateTitleAuthor(s)
2011Mutations 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
2009Dosage-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
2009CNTNAP2 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
2009New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.Heinritz, W.; Huffmeier, U.; Strenge, S.; Miterski, B.; Zweier, C., et al
2008Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.Rauch, A.; Thiel, C.T.; Schindler, D.; Wick, U.; Crow, Y.J., et al
2008Further 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
2007SOS1 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
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