Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2012
- Published
Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia
Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%
Almind, G. J., Ek, J., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Larsen, M., Lucamp, L., Brøndum-Nielsen, K. & Grønskov, K., Aug 2012, In: BMC Medical Genetics. 13, p. 65Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic studies in congenital anterior midline cervical cleft
Jakobsen, Linda Plovmand, Pfeiffer, P., Andersen, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, Niels, Aug 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 2021-6 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland
Homøe, Preben, Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, Hans Rudolf Lytchoff, Nielsen, I. & Tranebjærg, Lisbeth, Jun 2012, In: International Journal of Audiology. 51, 6, p. 433-6 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits
Gjesing, A. M. P., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Urhammer, S. A., Holst, Jens Juul, Pedersen, Oluf Borbye & Hansen, Teis Schjals, 2012, In: Diabetologia. 55, 5, p. 1338-1345 8 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
downloads
Sequencing and de novo assembly of 150 genomes from Denmark as a population reference
Research output: Contribution to journal › Letter › Research › peer-review
Published