Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
- 2010
- Published
Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
Farooq, M., Troelsen, J. T., Boyd, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, Niels, Baig, S. M. & Kjaer, K. W., Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Human eye colour and HERC2, OCA2 and MATP
Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 12 Jan 2010, In: Forensic Science International: Genetics. 4, 5, p. 323 - 328 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity
Gjesing, A. P., Larsen, L. H., Torekov, S. S., Hainerová, I. A., Kapur, R., Johansen, A., Albrechtsen, A., Boj, S., Holst, B., Harper, A., Urhammer, S. A., Borch-Johnsen, K., Pisinger, C. H., Echwald, S. M., Eiberg, H. R. L., Astrup, A., Lebl, J., Ferrer, J., Schwartz, T. W., Hansen, T. & 1 others, , 2010, In: P L o S One. 5, 4, 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Prænatal screening for leversygdommen (CFG) og stofskiftesygdommen (PCCB)
Nielsen, I., Bisgaard, S. M. L. & Eiberg, Hans Rudolf Lytchoff, 2010, In: Nakorsanut. 1, p. 12-17 6 p.Research output: Contribution to journal › Journal article › Research
ID: 5291
Most downloads
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4547
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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