Hans Rudolf Lytchoff Eiberg

Hans Rudolf Lytchoff Eiberg

Associate Professor

ORCID: 0000-0002-4140-1578

Publication year:
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1 - 8 out of 8Page size: 100
  1. 2008
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. Published

    Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension

    Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 2008, In: Electrophoresis. 29, 23, p. 4780-7 7 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  8. Published

    Hereditary henotypes in nocturnal enuresis

    Schaumburg, H. L., Kapilin, U., Blasvaer, C., Eiberg, Hans Rudolf Lytchoff, Gontard, A. V., Djurhuus, J. C. & Rittig, S., 2008, In: BJU International. 102, 7, p. 816-821 5 p.

    Research output: Contribution to journal › Journal article › Research › peer-review

  9. Published

    Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

    Hansen, T. V. O., Bisgaard, M. L., Jønson, L., Albrechtsen, Anders, Filtenborg-Barnkob, B., Eiberg, Hans Rudolf Lytchoff, Ejlertsen, B. & Nielsen, Finn Cilius, 2008, In: BMC Medical Genetics. 9, p. 58

    Research output: Contribution to journal › Journal article › Research › peer-review

ID: 5291