Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2009
- 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
- 2008
- Published
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Gilling, M., Lauritsen, M. B., Møller, Morten, Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, Hans Rudolf Lytchoff, Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H., Ullmann, R., Bache, Iben, Tümer, Asuman Zeynep & Tommerup, Niels, 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia
Medeiros, F. D., Hansen, Lars, Mawlad, E., Eiberg, Hans Rudolf Lytchoff, Asklund, C., Tommerup, Niels & Jakobsen, L. P., 2008, In: American Journal of Medical Genetics. Part A. 146A, 12, p. 1605-1608 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family
Sanggaard, K. M., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Nurnberg, G., Nurnberg, P., Hoffman, K., Jensen, H., Sorum, C., Rendtorff, N. D. & Tranebjærg, Lisbeth, 2008, In: American Journal of Medical Genetics. Part A. 146A, 8, p. 1017-1025 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1
Gonsorcíková, L., Pruhová, S., Cinek, O., Ek, J., Pelikánová, T., Jørgensen, T., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Hansen, T. & Lebl, J., 2008, In: Pediatric Diabetes. 9, 4 Pt 2, p. 367-72 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
Eiberg, Hans Rudolf Lytchoff, Troelsen, J., Boyd, M., Mikkelsen, Annemette Friis, Mengel-From, J., Kjaer, K. W. & Hansen, Lars, 2008, In: Human Genetics. 123, 2, p. 177-87 10 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 -
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