Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2007
- Published
A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth
Hansen, L., Kreiborg, Sven, Jarlov, H., Niebuhr, E. & Eiberg, Hans Rudolf Lytchoff, 2007, In: European Journal of Oral Sciences. 115, 4, p. 330-333 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.
Margolin, S., Eiberg, Hans Rudolf Lytchoff, Lindblom, A. & Bisgaard, M. L., 2007, In: BMC Cancer. 7, p. 163Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms
Thiel, S., Steffensen, R., Christensen, I. J., Ip, W. K., Lau, Y. L., Reason, I. J. M., Eiberg, Hans Rudolf Lytchoff, Gadjeva, M., Ruseva, M. & Jensenius, J. C., 2007, In: Genes and Immunity. 8, 2, p. 154-163 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fra forskning til forebyggelse i Grønland. Grønlandsmedicinsk Selskab
Nielsen, I. M., Kern, P. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Ugeskrift for læger. 169, 12, p. 1105-Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA
Hansen, Lars, Yao, W. L., Eiberg, Hans Rudolf Lytchoff, Kjær, K. W., Baggesen, K., Hejtmancik, J. F. & Rosenberg, T., 2007, In: Investigative Ophthalmology & Visual Science. 48, 9, p. 3937-3944 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas
Gao, S., Krogdahl, A., Eiberg, Hans Rudolf Lytchoff, Liu, C. J. & Sørensen, J. A., 2007, In: Journal of Oral Pathology & Medicine. 36, 3, p. 173-176 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Non-disjunction of chromosome
Bugge, T. M., Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel MAF mutation in a family with congenital cataract-microcornea syndrome
Hansen, L., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2007, In: Molecular Vision. 13, 223-27, p. 2019-2022 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
Ellard, S., Thomas, K., Edghill, E. L., Owens, M., Ambye, L., Cropper, J., Little, J., Strachan, M., Stride, A., Ersoy, B., Pedersen, O., Shepherd, M. H., Hansen, T., Harries, L. W., Hattersley, A. T. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Diabetologia. 50, 11, p. 2313-2317 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
Most downloads
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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
downloads
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