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Eva Klopocki

Institute for Medical Genetics

Charité Universitätsmedizin Berlin

13353 Berlin

Germany

[email]@charite.de

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Affiliation

Institute for Medical Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. 2006 - 2011

References

Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., Betz, R.C., Garaci, F.G., Dallapiccola, B., Jain, M., Muenke, M., Ng, V.C., Chan, W., Chan, D., Mundlos, S. Am. J. Hum. Genet. (2011) [Pubmed]
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. Klopocki, E., Graul-Neumann, L.M., Grieben, U., Tönnies, H., Ropers, H.H., Horn, D., Mundlos, S., Ullmann, R. Eur. J. Pediatr. (2008) [Pubmed]
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. Klopocki, E., Fiebig, B., Robinson, P., Tönnies, H., Erdogan, F., Ropers, H.H., Mundlos, S., Ullmann, R. Am. J. Med. Genet. A (2006) [Pubmed]
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. Klopocki, E., Neumann, L.M., Tönnies, H., Ropers, H.H., Mundlos, S., Ullmann, R. Eur. J. Hum. Genet. (2006) [Pubmed]