Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2006
- Published
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T. & Tranebjaerg, L., 2006, In: Journal of Medical Genetics. 43, 5, p. 435-440 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Heat-shock protein 70 genes and human longevity: a view from Denmark
Singh, R., Kolvraa, S., Bross, P., Christensen, K., Gregersen, N., Tan, Q., Jensen, U. B., Eiberg, Hans Rudolf Lytchoff & Rattan, S. I., 2006, In: Annals of the New York Academy of Sciences. 1067, p. 301-308 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Screening for Y microdeletions in men with testicular cancer and undescended testis
Bor, P., Hindkjaer, J., Kølvraa, S., Rossen, P., von der Maase, H., Jørgensen, T. M., Sørensen, V. T., Eiberg, Hans Rudolf Lytchoff & Ingerslev, H. J., 2006, In: Journal of Assisted Reproduction and Genetics. 23, 1, p. 41-45 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
Hansen, Lars, Yao, W., Eiberg, Hans Rudolf Lytchoff, Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F. & Rosenberg, T., 2006, In: Molecular Vision. 12, 116, p. 1033-1039 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites
Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben & Pedersen, Oluf Borbye, 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-7 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites
Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jorgensen, T., Hansen, T. & Pedersen, O., 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-367 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2005
- Published
Mapping of Hereditary Trichilemmal Cyst (TRICY1) to Chromosome 3p24-p21.2 and Exclusion of β-CATENIN and MLH1
Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hansen, C., Mohr, J., Teglbjærg, P. S. & Kjaer, K. W., 15 Feb 2005, In: American Journal of Medical Genetics. 133 A, 1, p. 44-47 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions
Kjær, K. W., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Utkus, A., Skovgaard, Lene Theil, Leicht, P., Opitz, J. M. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part A. 138, 4, p. 328-39 12 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Cytoplasmic expression of E-cadherin and β-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas
Gao, S., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Lui, C. & Sørensen, J. A., 2005, In: J. Oral. Pathol. Med.. Vol. 34, p. 116-119Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)
Kjær, K. W., Hansen, L., Schwabe, G. C., Marques-de-Faria, A. P., Eiberg, Hans Rudolf Lytchoff, Mundlos, S., Tommerup, Niels & Rosenberg, T., 2005, In: Journal of Medical Genetics. Vol. 42, p. 292-298Research 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