Niels Tommerup

Niels Tommerup

Professor, dr.med., Professor


Publication year:
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1 - 10 out of 17Page size: 10
  1. 2006
  2. Published

    4q35 deletion and 10p15 duplication associated with immunodeficiency

    Cingoz, S., Bisgaard, A. M., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H. H., Maas, N., Buggenhout, G. V., Tommerup, Niels, Tümer, Asuman Zeynep & Bache, Iben, 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2231-2235 4 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

    Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hagen, C. B. V. D., Rosendahl, K., Tommerup, Niels & Mundlos, S., 2006, In: Journal of Medical Genetics. 43, 3, p. 225-231 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens

    Wu, Q. F., Tommerup, Niels, Wang, S. M. & Hansen, L., 2006, In: Gene. 371, 2, p. 167-173 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. Published

    Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

    Bisgaard, A. M., Kirchhoff, M., Tümer, Asuman Zeynep, Jepsen, B., Brøndum-Nielsen, K., Cohen, M., Hamborg-Petersen, B., Bryndorf, T., Tommerup, Niels & Skovby, F., 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2180-2187 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans

    Gilling, M., Dullinger, J. S., Gesk, S., Metzke-Heidemann, S., Siebert, R., Meyer, T., Brondum-Nielsen, K., Tommerup, Niels, Ropers, H. H., Tümer, Asuman Zeynep, Kalscheuer, V. M. & Thomas, N. S., 2006, In: American Journal of Human Genetics. 78, 5, p. 878-883 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Breakpoints around the HOXD cluster result in various limb malformations

    Dlugaszewska, B., Silahtaroglu, Asli, Menzel, C., Kübart, S., Cohen, M., Mundlos, S., Tümer, Asuman Zeynep, Kjær, K. W., Friedrich, U., Ropers, H., Tommerup, Niels, Neitzel, H. & Kalscheuer, V. M., 2006, In: Journal of Medical Genetics. 43, 2, p. 111-118 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Call for nomination of members of the International Standing Committee of Human Cytogenetic Nomenclature 2006-2011

    Tommerup, Niels, 2006, In: European Journal of Medical Genetics. 49, 1, p. 101-101

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

    Baekvad-Hansen, M., Tümer, Asuman Zeynep, Delicado, A., Erdogan, F., Tommerup, Niels & Larsen, Lars Allan, 2006, In: American Journal of Medical Genetics. Part A. 140A, 5, p. 427-433 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

    Hagens, O., Dubos, A., Abidi, F., Barbi, G., Zutven, L. V., Hoeltzenbein, M., Tommerup, Niels, Moraine, C., Fryns, J. P., Chelly, J., Bokhoven, H. V., Gecz, J., Dollfus, H. N., Ropers, H. H., Schwartz, C. E., Santos, R. C. S. D., Kalscheuer, V. & Hanauer, A., 2006, In: Human Genetics. 118, 5, p. 578-590 12 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  11. Published

    Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA.

    Bak, M., Conley, L., Hedegaard, J., Larsen, Lars Allan, Sørensen, P., Bendixen, C. & Tommerup, Niels, 2006, In: Analytical Biochemistry. 358, 1, p. 111-9 8 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

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