Iben Bache

Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

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  1. Published

    17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

    Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, Iben, Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, Olav Bennike Bjørn, Brasch-Andersen, C. & Sunde, L., Nov 2016, In: American Journal of Medical Genetics. Part A. 170, 11, p. 2934-2942

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

  2. Published

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., de Bellescize, J., Scholly, J., Moller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P. & 21 others, Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1761-1770 10 p.

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

  3. Published

    Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

    Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, Iben, Knabe, N., Miranda, Maria J. & Tümer, Asuman Zeynep, 2016, In: Molecular Cytogenetics. 9, 7 p., 11.

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

  4. Published

    Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

    Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, Iben, Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

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

  5. Published

    Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

    Rasmussen, Malene Bøgehus, Bache, Iben, Mehrjouy, M. M., Silahtaroglu, Asli, Kjaergaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Vogel, I., Hertz, J. M., Fagerberg, C., Bojesen, Anders Miki, Petersen, M. B., Hansen, J., Halgren, C., Bak, M. & Tommerup, Niels, May 2016, In: Cancer genetics. 209, 5, p. 231-231

    Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

  6. Published

    Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education

    Makransky, Guido, Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, Iben, Silahtaroglu, Asli & Nørremølle, Anne, Mar 2016, In: B M C Medical Education. 16, 1, p. 1-9 9 p., 98.

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

ID: 33969897