Lars Hansen

Lars Hansen

Guest Researcher

Member of:


    Publication year:
    All
    21 - 30 out of 59Page size: 10
    1. 2011
    2. Published

      Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

      Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, Lars, Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjærg, Lisbeth, 2011, In: American Journal of Medical Genetics. Part A. 155, 6, p. 1298-313 16 p.

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

    3. 2012
    4. Published

      Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

      Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.

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

    5. Published

      Author response: Nonspecific PCR amplification of CRYBB2-pseudogene leads to misconception of natural variation as mutation

      Hansen, Lars & Rosenberg, T., 1 Sep 2012, In: Investigative Ophthalmology and Visual Science. 53, 10, 1 p., 6666.

      Research output: Contribution to journal › Comment/debate › Research › peer-review

    6. Published

      Genetic studies in congenital anterior midline cervical cleft

      Jakobsen, Linda Plovmand, Pfeiffer, P., Andersen, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, Niels, Aug 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 2021-6 6 p.

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

    7. 2013
    8. Published

      Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

      Grønskov, K., Dooley, C. M., Østergaard, Elsebet, Kelsh, R. N., Hansen, Lars, Levesque, M. P., Vilhelmsen, K., Møllgård, Kjeld, Stemple, D. L. & Rosenberg, T., 7 Mar 2013, In: American Journal of Human Genetics. 92, 3, p. 415-21 7 p.

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

    9. Published

      Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

      Hansen, Lars, Tawamie, H., Murakami, Y., Mang, Y., ur Rehman, S., Buchert, R., Schaffer, S., Muhammad, S., Bak, M., Nöthen, M. M., Bennett, Eric Paul, Maeda, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, Niels, Baig, S. M. & Abou Jamra, R., 4 Apr 2013, In: American Journal of Human Genetics. 92, 4, p. 575-83 9 p.

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

    10. Published

      Genetic heterogeneity in Pakistani microcephaly families

      Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, Hans Rudolf Lytchoff, Kjaer, K. W., Tommerup, Niels, Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, Lars, May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.

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

    11. 2014
    12. Published

      The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

      Hansen, Lars, Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels, Rosenberg, T. & Pilgrim, D., Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1290-1297 8 p.

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

    13. Published

      Immature truncated O-glycophenotype of cancer directly induces oncogenic features

      Radhakrishnan, P., Dabelsteen, S., Madsen, F. B., Francavilla, C., Kopp, K. L., Steentoft, C., Vakhrushev, S. Y., Olsen, J. V., Hansen, L., Bennett, E. P., Woetmann, A., Yin, G., Chen, L., Song, H., Bak, M., Hlady, R. A., Peters, S. L., Opavsky, R., Thode, C., Qvortrup, K. & 4 others, Schjoldager, Katrine Ter-Borch Gram, Clausen, Henrik, Hollingsworth, M. A. & Wandall, Hans H., 12 Aug 2014, In: Proceedings of the National Academy of Sciences of the United States of America. 111, 39, p. e4066-e4077 10 p.

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

    14. Published

      UDP-gal: BetaGlcNAc Beta 1,3-galactosyltransferase, polypeptide 1,2 (B3GALT1,2)

      Vester-Christensen, M. B., Hansen, Lars & Clausen, Henrik, 2014, Handbook of Glycosyltransferases and Related Genes, Second Edition. Springer, Vol. 1. p. 73-80 8 p.

      Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

    Previous 1 2 3 4 5 6 Next

    ID: 544414