Hans Rudolf Lytchoff Eiberg

Hans Rudolf Lytchoff Eiberg

Associate Professor

ORCID: 0000-0002-4140-1578

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  1. 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. 65

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene

    Andresen, B. S., Kølvraa, S., Bross, P., Bolund, L., Curtis, D., Eiberg, Hans Rudolf Lytchoff, Zhang, Z., Kelly, D. P., Strauss, A. W. & Gregersen, N., 1993, In: Human Molecular Genetics. 2, p. 4

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

    Anjum, I., Eiberg, Hans Rudolf Lytchoff, Baig, S. M., Tommerup, Niels & Hansen, Lars, Mar 2010, In: Molecular Vision. 16, p. 549-55 6 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  4. Published

    Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes

    Bacos, K., Gillberg, L., Volkov, P., Olsson, A. H., Hansen, Torben, Pedersen, Oluf Borbye, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Tuomi, T., Almgren, P., Groop, L., Eliasson, L., Vaag, Allan, Dayeh, T. & Ling, C., 2016, In: Nature Communications. 7, 13 p., 11089.

    Research output: Contribution to journal › Journal article › Research › peer-review

  5. 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. 207-211

    Research output: Contribution to journal › Journal article › Research › peer-review

  6. Published

    Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347

    Research output: Contribution to journal › Journal article › Research › peer-review

  7. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Assignment of GUCY1B2, the Gene Coding for the ¿2 Subunit of Human Guanylyl Cyclase to Chromosomal Band 13q14.3 between Markers D13S168 and D13S155

    Behrends, S., Kazmierczak, B., Steenpass, A., Knauf, B., Bullerdiek, J., Scholz, H. & Eiberg, Hans Rudolf Lytchoff, 1999, In: Genomics. 55, p. 126-127

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Cloning of a Human UDP-N-Acetyl-a-d-Galactosamine: Polypeptide N-Acetylgalactosaminyltransf. That Complements Other GalNAc-Transf. in Complete O-Glycosylation of the MUC1 Tandem Repeat

    Bennett, Eric Paul, Hassan, H. S., Mandel, U., Mirgorodskaya, E., Roepstorff, P., Burchell, J., Taylor-Papadimitriou, J., Hollingsworth, M. A., Merkx, G., Kessel, A. G. V., Eiberg, Hans Rudolf Lytchoff, Steffensen, R. & Clausen, Henrik, 1998, In: Journal of Biological Chemistry. Vol. 273, No. 46, p. 30472-30481

    Research output: Contribution to journal › Journal article › Research › peer-review

  10. Published

    Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

    Besenbacher, S., Liu, S., Gonzalez-Izarzugaza, J. M., Grove, J., Belling, K. G., Bork-Jensen, J., Huang, S., Als, T. D., Li, S., Yadav, R., Rubio García, A., Lescai, F., Demontis, D., Rao, J., Ye, W., Mailund, T., Møllegaard Friborg, R., Pedersen, C. N. S., Xu, R., Sun, J. & 27 others, Liu, H., Wang, O., Cheng, X., Flores, D., Rydza, E. K., Rapacki, K., Sørensen, J. D., Chmura, P. J., Westergaard, David, Dworzynski, P., Sørensen, Thorkild I.A., Lund, O., Hansen, Torben, Xu, X., Li, N., Bolund, L., Pedersen, Oluf Borbye, Eiberg, Hans Rudolf Lytchoff, Krogh, Anders, Børglum, A. D., Brunak, Søren, Kristiansen, Karsten, Schierup, M. H., Wang, J., Gupta, R., Villesen, P. & Rasmussen, Simon, 2015, In: Nature Communications. 6, 9 p., 5969.

    Research output: Contribution to journal › Journal article › Research › peer-review

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