Hans Rudolf Lytchoff Eiberg
Associate Professor
Medical Genetics Program
Blegdamsvej 3, 2200 København N.
ORCID: 0000-0002-4140-1578
1 - 3 out of 3Page size: 10
- 2020
- Published
Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome
Korsgaard, T., Joshi, S., Andersen, R. F., Moeller, K., Seeman, T., Podracká, L., Eiberg, Hans Rudolf Lytchoff & Rittig, S., 2020, In: European Journal of Pediatrics. 179, 9, p. 1481-1486 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 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. 2343-2347Research output: Contribution to journal › Journal article › Research › peer-review
- Published
RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis
Farooq, M., Lindbæk, L., Krogh, N., Doganli, C., Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Møllgård, K., Nielsen, H., Baig, S. M. & 3 others, , 2020, In: Nature Communications. 11, 16 p., 5816.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 5291
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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
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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
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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