European Journal of Medical Genetics, 1769-7212

Tidskrift

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  1. 2019
  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Christesen, H. T., Christensen, L. G., Löfgren, Å. M., Brøndum-Nielsen, K., Svensson, J., Brusgaard, K., Sofie Samuelsson, Maria Elfving, Tord Jonson, Grønskov, K., Rasmussen, L., Backman, T., Hansen, L. K., Larsen, A. R., Petersen, H. & Detlefsen, S., 2019, I : European Journal of Medical Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2015
  4. No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.

    Winberg, J., Berggren, H., Torsten Malm, Johansson, S., Johansson, J., Nilsson, B., Liedén, A., Nordenskjöld, A., Gustavsson, P. & Nordgren, A., 2015, I : European Journal of Medical Genetics. 58, 3, s. 129-133

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. 2011
  6. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

    Gilling, M., Lind-Thomsen, A., Mang, Y., Bak, M., Moller, M., Ullmann, R., Ulf Kristoffersson, Kalscheuer, V. M., Henriksen, K. F., Bugge, M., Tumer, Z. & Tommerup, N., 2011, I : European Journal of Medical Genetics. 54, 4, s. E383-E388

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. 2010
  8. 22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

    Lundin, J., Soderhall, C., Lunden, L., Hammarsjo, A., White, I., Schoumans, J., Lackgren, G., Clementson Kockum, C. & Nordenskjold, A., 2010, I : European Journal of Medical Genetics. 53, 2, s. 61-65

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 2007
  10. Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida

    Gustavsson, P., Schoumans, J., Johan Staaf, Åke Borg, Nordenskjold, M. & Anneren, G., 2007, I : European Journal of Medical Genetics. 50, 3, s. 237-241

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. 2005
  12. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to similar to 650 kb

    Schoumans, J., Johan Staaf, Göran B Jönsson, Rantala, J., Zimmer, K. S., Åke Borg, Nordenskjold, M. & Anderlid, B. M., 2005, I : European Journal of Medical Genetics. 48, 3, s. 290-300

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift