European Journal of Medical Genetics, 1769-7212

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  1. 2020
  2. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Henrik Thybo Christesen, Lene Gaarsmand Christensen, Åsa Mattsson Löfgren, Karen Brøndum-Nielsen, Johan Svensson, Klaus Brusgaard, Sofie Samuelsson, Maria Elfving, Tord Jonson, Karen Grønskov, Lars Rasmussen, Torbjörn Backman, Lars Kjaersgaard Hansen, Annette Rønholt Larsen, Henrik Petersen & Sönke Detlefsen, 2020 Jan, In : European Journal of Medical Genetics. 63, 1, 103632.

    Research output: Contribution to journalArticle

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

    Johanna Winberg, Håkan Berggren, Torsten Malm, Sune Johansson, Jens Johansson, Boris Nilsson, Agne Liedén, Agneta Nordenskjöld, Peter Gustavsson & Ann Nordgren, 2015, In : European Journal of Medical Genetics. 58, 3, p. 129-133

    Research output: Contribution to journalArticle

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

    Mette Gilling, Allan Lind-Thomsen, Yuan Mang, Mads Bak, Morten Moller, Reinhard Ullmann, Ulf Kristoffersson, Vera M. Kalscheuer, Karen Friis Henriksen, Merete Bugge, Zeynep Tumer & Niels Tommerup, 2011, In : European Journal of Medical Genetics. 54, 4, p. E383-E388

    Research output: Contribution to journalArticle

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

    Johanna Lundin, Cilla Soderhall, Lina Lunden, Anna Hammarsjo, Irene White, Jacqueline Schoumans, Goran Lackgren, Christina Clementson Kockum & Agneta Nordenskjold, 2010, In : European Journal of Medical Genetics. 53, 2, p. 61-65

    Research output: Contribution to journalArticle

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

    Peter Gustavsson, Jacqueline Schoumans, Johan Staaf, Åke Borg, Magnus Nordenskjold & Goran Anneren, 2007, In : European Journal of Medical Genetics. 50, 3, p. 237-241

    Research output: Contribution to journalArticle

  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

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

    Research output: Contribution to journalArticle