Niels Tommerup
Professor, dr.med., Professor
Department of Cellular and Molecular Medicine
Blegdamsvej 3, Building: 22.4.28
2200 2200 København N
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- 1996
- Published
Assignment of the human tryptophanyl-tRNA synthetase gene (WARS) to chromosome 14q32.2-q32.2
Børglum, A. D., Flint, T., Tommerup, Niels, Fleckner, J., Justesen, J. & Kruse, T. A., 1996, In: Cytogenetic and Genome Research. 73, p. 99-103Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
Schulze, A., Hansen, C., Skakkebæk, N. E., Brøndum-Nielsen, K. & Tommerup, Niels, 1996, In: Nature Genetics. 12, 4, p. 452-454Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Molecular characterization of a novel human hybrid-type receptor that binds the alpha2-macroglobulin receptor-associated protein.
Jacobsen, L., Madsen, P., Moestrup, S. K., Lund, Anders H., Tommerup, Niels, Nykjaer, A., Sottrup-Jensen, L., Gliemann, J. & Petersen, C. M., 1996, In: Journal of Biological Chemistry. 271, 49, p. 31379-83 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma
Hofstra, R. M. W., Cheng, N. C., Kreiner, Claus Thustrup, Stelwagen, T., Clausen, N., Tommerup, Niels, Caron, H., Westerveld, A., Versteeg, R. & Buys, C. H. C. M., 1996, In: Human Genetics. 97, 3, p. 362-364Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Occurrence of cancer in women with Turner syndrome
Hasle, H., Olesen, J. H., Nielsen, J., Hansen, J., Frederich, U. & Tommerup, Niels, 1996, In: British Journal of Cancer. 73, p. 1156-1159Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation
Bugge, M., Blennow, E., Friedrich, U., Petersen, M. B., Pedeutour, F., Tsezou, A., Ørum, A., Hermann, S., Lyngbye, T., Sarri, C., Avramopoulos, D., Kitsiou, S., Lambert, J. C., Guzda, M., Tommerup, Niels & Brøndum-Nielsen, K., 1996, In: European Journal of Human Genetics. 4, 3, p. 160-167Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5189
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2623
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1901
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1157
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
Published