Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2007
- Published
Non-disjunction of chromosome
Bugge, T. M., Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel MAF mutation in a family with congenital cataract-microcornea syndrome
Hansen, L., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2007, In: Molecular Vision. 13, 223-27, p. 2019-2022 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young
Ellard, S., Thomas, K., Edghill, E. L., Owens, M., Ambye, L., Cropper, J., Little, J., Strachan, M., Stride, A., Ersoy, B., Pedersen, O., Shepherd, M. H., Hansen, T., Harries, L. W., Hattersley, A. T. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Diabetologia. 50, 11, p. 2313-2317 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential
Bross, P., Li, Z., Hansen, J., Hansen, J. J., Nielsen, M. N., Corydon, T. J., Georgopoulos, C., Ang, D., Lundemose, J. B., Niezen-Koning, K., Eiberg, Hans Rudolf Lytchoff, Yang, H., Kølvraa, S., Bolund, L. & Gregersen, N., 2007, In: Journal of Human Genetics. 52, 1, p. 56-65 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family
Jakobsen, L. P., Ullmann, R., Kjær, K. W., Knudsen, M. A., Tommerup, Niels & Eiberg, Hans Rudolf Lytchoff, 2007, In: American Journal of Medical Genetics. Part A. 143A, 22, p. 2716-2721 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype
Kier-Swiatecka, E., Kock, M., Marker, P., Eiberg, Hans Rudolf Lytchoff & Kjær, K. W., 2007, In: American Journal of Medical Genetics. Part A. 143A, 8, p. 891-894 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The CHEK2 1100delC variant in Swedish colorectal cancer.
Djureinovic, T., Lindblom, A., Dalén, J., Dedorson, S., Edler, D., Hjern, F., Holm, J., Lenander, C., Lindforss, U., Lundqvist, N., Olivecrona, H., Olsson, L., Påhlman, L., Rutegård, J., Smedh, K., Törnqvist, A., Eiberg, Hans Rudolf Lytchoff & Bisgaard, M. L., 2007, In: Anticancer Research. 26, 6C, p. 4885-8 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites
Jensen, D. P., Lepola, Mette Andersen, Hansen, L., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben, Pedersen, Oluf Borbye & Andreasen, C. H., 2007, In: Journal of Molecular Medicine. 85, 5, p. 445-9 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2006
- Published
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis
Witt, H., Sahin-Toth, M., Landt, O., Chen, J. M., Kahne, T., Drenth, J. P. H., Kukor, Z., Szepessy, E., Halangk, W., Dahm, S., Rohde, K., Schulz, H. U., Marechal, C. L., Akar, N., Ammann, R. W., Truninger, K., Bargetzi, M., Bhatia, E., Castellani, C., Cavestro, G. M. & 45 others, , 2006, In: Nature Genetics. 38, 6, p. 668-673 5 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hagen, C. B. V. D., Rosendahl, K., Tommerup, Niels & Mundlos, S., 2006, In: Journal of Medical Genetics. 43, 3, p. 225-231 6 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
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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 -
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