Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2004
- Published
Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinson's disease patients
Bak, M., Hansen, C., Henriksen, K. F., Hansen, L., Pakkenberg, H., Eiberg, Hans Rudolf Lytchoff & Tommerup, Niels, 2004, In: Brain Research. Vol. 126, p. 207-211Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel Connexin 43(GJA1) mutation causes oculo-dento-digital dysplasia with curly hair
Kjær, K. W., Hansen, L., Eiberg, Hans Rudolf Lytchoff, Leicht, P., Opitz, J. M. & Tommerup, Niels, 2004, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 127A, p. 152-157Research output: Contribution to journal › Journal article › Research › peer-review
- 2003
- Published
A novel mutation in the <epsilon>sarcoglycan gene causing myoclonus-Dystonia syndrome
Hjermind, L. E., Werdelin, L. M., Eiberg, Hans Rudolf Lytchoff, Kragh, O. B., Dupont, E. & Sørensen, S. A., 2003, In: Neurology. Vol. 60, p. 1536-1539Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods
Milman, N., Koefoed, P., Pedersen, P., Nielsen, Finn Cilius & Eiberg, Hans Rudolf Lytchoff, 2003, In: European Journal of Haematology. 71, 6, p. 403-7 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 seperated by a bidirectional promoter
Hansen, J. J., Broos, P., Westergaard, M., Nielsen, M. N., Eiberg, Hans Rudolf Lytchoff, Børglum, A. D., Mogensen, J., Kristiansen, K., Bolund, L. & Gregersen, N., 2003, In: Hum. Genet.. Vol. 112, p. 71-77Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Heterogeneity of FeNO response to inhaled steroid in asthmatic children
Buchvald, F., Eiberg, Hans Rudolf Lytchoff & Bisgaard, H., 2003, In: Clin. Exp. Allergy. Vol. 33, p. 1735-1740Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Mutational analysis of the human FATE gene in 144 infertile men
Olesen, C., Silber, J., Eiberg, Hans Rudolf Lytchoff, Ernst, E., Petersen, K., Lindenberg, S. & Tommerup, Niels, 2003, In: Hum. Genet.. Vol. 113, p. 195-201Research output: Contribution to journal › Journal article › Research › peer-review
- 2002
- Published
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
Thiselton, D. L., Alexander, C., Taanman, J. W., Brooks, S., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Andreasson, S., Van Regemorter, N., Munier, F. L., Moore, A. T., Bhattacharya, S. S. & Votruba, M., 2002, In: Invest. Ophthalmol. Vis. Sci.. Vol. 43, p. 1715-1724Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic evidence that HNF-1α-dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function
Hansen, S. K., Párrizas, M., Jensen, M. L., Pruhova, S., Ek, J., Boj, S. F., Johansen, A., Maestro, M. A., Rivera, F., Eiberg, Hans Rudolf Lytchoff, Andel, M., Lebl, J., Pedersen, O., Ferrer, J. & Hansen, T., 2002, In: The Journal of Clinical Investigation. vol. 110, p. 827-833Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function
Hansen, S. K., Párrizas, M., Jensen, M. L., Pruhova, S., Ek, J., Boj, S. F., Johansen, A., Maestro, M. A., Rivera, F., Eiberg, Hans Rudolf Lytchoff, Andel, M., Lebl, J., Pedersen, Oluf Borbye, Ferrer, J. & Hansen, Torben, 2002, In: Journal of Clinical Investigation. 110, 6, p. 827-33 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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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 -
1887
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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 -
408
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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