Iben Bache

Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

Publication year:
All
31 - 40 out of 42Page size: 10
Sort by: Title
  1. 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

  2. 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

  3. 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

  4. Published

    Re-examination of carriers of balanced structural rearrangements

    Bache, Iben, 2007

    Research output: Book/Report › Ph.D. thesis › Research

  5. Published

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J., Bryndorf, T. & 5 others, Hansen, C., Talkowski, M. E., Bak, M., Tommerup, Niels & Bache, Iben, 2018, In: American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

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

  6. Published

    Saturation of the Human Genome with Chromosomal Breakpoints

    Rasmussen, Malene Bøgehus, Schlechter, C. L., Mehrjouy, M. M., Bache, Iben, Lind-Thomsen, A., Silahtaroglu, Asli, Kjærgaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Fonseca, A. C. D., Morgante, A. M. V., Abe, K. T., Harding, Christina Halgren, Bak, M., Jacky, P. & Tommerup, Niels, 2014, In: Cytogenetic and Genome Research. 142, 3, 2 p., 2.

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

  7. 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

  8. Published

    Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

    Bache, Iben, Hjorth, M., Bugge, Merete, Holstebroe, S., Hilden, Jørgen, Schmidt, Lone, Brondum-Nielsen, K., Bruun-Petersen, G., Jensen, P. K. A., Lundsteen, C., Niebuhr, E., Rasmussen, K. & Tommerup, Niels, 2006, In: European Journal of Human Genetics. 14, 4, p. 410-7 7 p.

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

  9. Published

    The eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1. Mb of chromosome 21 and osteoporosis in Down syndrome

    Tümer, Asuman Zeynep, Henriksen, A. M., Bache, Iben, Larsen, Lars Allan, Brixen, K., Illum, N., Rasmussen, K. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341

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

  10. Published

    The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood

    Döring, J. H., Saffari, A., Bast, T., Brockmann, K., Ehrhardt, L., Fazeli, W., Janzarik, W. G., Kluger, G., Muhle, H., Møller, R. S., Platzer, K., Santos, J. L., Bache, I., Bertsche, A., Bonfert, M., Borggräfe, I., Broser, P. J., Datta, A. N., Hammer, T. B., Hartmann, H. & 20 others, Hasse-Wittmer, A., Henneke, M., Kühne, H., Lemke, J. R., Maier, O., Matzker, E., Merkenschlager, A., Opp, J., Patzer, S., Rostasy, K., Stark, B., Strzelczyk, A., von Stülpnagel, C., Weber, Y., Wolff, M., Zirn, B., Hoffmann, G. F., Kölker, S., Syrbe, S. & PRRT2-Study-Group, P., 2020, In: Biomedicines. 8, 11, p. 1-14 14 p., 456.

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

Previous 1 2 3 4 5 Next

ID: 33969897