All Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (5)

Journal Article

Kalscheuer, V. M.; Feenstra, I.; Van Ravenswaaij-Arts, C. M. A.; Smeets, D. F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; r Ropers, H.-H.: Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 146 A (16), pp. 2053 - 2059 (2008)

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Journal Article

Mller, R. S.; Kübart, S.; Hoeltzenbein, M.; Heye, B.; Vogel, I.; Hansen, C. P.; Menzel, C.; Ullmann, R.; Tommerup, N.; Ropers, H.-H. et al.; Tümer, Z.; Kalscheuer, V. M.: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics 82 (5), pp. 1165 - 1170 (2008)

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Journal Article

Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), pp. 1143 - 1149 (2008)

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Journal Article

Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), pp. 37 - 40 (2008)

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Journal Article

Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), pp. 337 - 342 (2008)

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