Klaus Wilbrandt Kjær

Klaus Wilbrandt Kjær

Associate professor


  1. 2020
  2. Published

    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

    Farooq, Muhammad, Lindbæk, L., Krogh, Nicolai, Doganli, Canan, Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Yuan, Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, Hans Rudolf Lytchoff, Hansen, L., Kjær, Klaus Wilbrandt, Gopalakrishnan, J., Pedersen, Lotte Bang, Møllgård, Kjeld, Nielsen, Henrik, Baig, S. M., Tommerup, Niels, Christensen, Søren Tvorup & Larsen, Lars Allan, 2020, In: Nature Communications. 11, 16 p., 5816.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2017
  4. Published

    A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

    Abdullah, U., Farooq, Muhammad, Mang, Yuan, Marriam Bakhtiar, S., Fatima, A., Hansen, Lars, Kjær, Klaus Wilbrandt, Larsen, Lars Allan, Faryal, Sanam, Tommerup, Niels & Mahmood Baig, S., Dec 2017, In: European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Mutation of the planar cell polarity gene VANGL1 in adolescent idiopathic scoliosis

    Andersen, M. R., Farooq, Muhammad, Rasmussen, K. K., Kjær, Klaus Wilbrandt, Simony, A., Christensen, Søren Tvorup & Larsen, Lars Allan, 2017, In: Spine. 42, 12, p. E702–E707 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. 2016
  7. Published

    A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

    Farooq, Muhammad, Fatima, A., Mang, Yuan, Hansen, L., Kjær, Klaus Wilbrandt, Baig, S. M., Larsen, Lars Allan & Tommerup, Niels, Mar 2016, In: Journal of Human Genetics. 61, 3, p. 271-273 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. 2014
  9. Published

    Microduplications encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Haas Type Polysyndactyly and Laurin-Sandrow Syndrome

    Lohan, S., Spielmann, M., Doelken, S. C., Flöttmann, R., Farooq, Muhammad, Baig, S. M., Wajid, M., Hülsemann, W., Habenicht, R., Kjær, Klaus Wilbrandt, Patil, S. J., Girisha, K. M., Abarca-Barriga, H. H., Mundlos, S. & Klopocki, E., Oct 2014, In: Clinical Genetics. 86, 4, p. 318-325 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. 2013
  11. Published

    Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family

    Farooq, Muhammad, Nakai, H., Fujimoto, A., Fujikawa, H., Kjær, Klaus Wilbrandt, Baig, S. M. & Shimomura, Y., Nov 2013, In: Human Genetics. 132, 11, p. 1253-1264 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Genetic heterogeneity in Pakistani microcephaly families

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

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. 2010
  14. 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, Muhammad, Troelsen, J. T., Boyd, M., Eiberg, Hans Rudolf Lytchoff, Hansen, L., Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, Niels, Baig, S. M. & Kjær, Klaus Wilbrandt, Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations

    Basel-Vanagaite, L., Pasmanik-Chor, M., Lurie, R., Yeheskel, A. & Kjær, Klaus Wilbrandt, 2010, In: Molecular Syndromology. 1, 5, p. 223-230 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published
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