Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2009
- Published
A high frequent BRCA1 founder mutation identified in the Greenlandic population
Harboe, T. L., Eiberg, Hans Rudolf Lytchoff, Kern, P., Ejlertsen, Bent Laursen, Nedergaard, L., Timmermans-Wielenga, V., Nielsen, I. & Bisgaard, M. L., 2009, In: Familial Cancer. 8, 4, p. 413-9 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Analysis of RUNX2 in a Danish cohort of cleidocranial dysplasia patients revealed two large chromosomal deletions and 14 pathogenic point mutations.
Hansen, L., Riis, A., Hove, H., Lauridsen, E., Eiberg, Hans Rudolf Lytchoff & Kreiborg, Sven, 2009.Research output: Contribution to conference › Conference abstract for conference › Research
- Published
Compound heterozygous ASPM mutations in Pakistani MCPH families
Muhammad, F., Mahmood Baig, S., Hansen, Lars, Sajid Hussain, M., Anjum Inayat, I., Aslam, M., Anver Qureshi, J., Toilat, M., Kirst, E., Wajid, M., Nürnberg, P., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels & Kjaer, K. W., 2009, In: American Journal of Medical Genetics. Part A. 149A, 5, p. 926-30 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
Hansen, Lars, Mikkelsen, Annemette Friis, Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2009, In: Investigative Ophthalmology & Visual Science. 50, 7, p. 3291-303 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Polymorphic drug metabolizing CYP-enzymes - a pathogenic factor in oral lichen planus?
Kragelund, C., Hansen, C., Reibel, Jesper, Nauntofte, B., Brøsen, K., Pedersen, Anne Marie Lynge, Smidt, D., Eiberg, Hans Rudolf Lytchoff & Torpet, L. A., 2009, In: Journal of Oral Pathology & Medicine. 38, 1, p. 63-71 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, , 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variants near MC4R associate with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes
Zobel, D. P., Andreasen, C. H., Grarup, N., Eiberg, Hans Rudolf Lytchoff, Sørensen, Thorkild I.A., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Pedersen, Oluf Borbye & Hansen, T., 2009, In: Diabetes. p. 757-764 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variation in the gene encoding Kruppel-like factor 7 influences body fat: studies of 14,818 Danes
Zobel, D., Andreasen, C., Burgdorf, K., Andersson, E., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Maeda, S., Nakamura, Y., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye & Hansen, Torben, 2009, In: European Journal of Endocrinology. 160, 4, p. 603-9Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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4547
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Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
1878
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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 -
403
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Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Research output: Contribution to journal › Letter › Research › peer-review
Published