Molecular Genetics & Genomic Medicine, 2324-9269

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  1. 2020
  2. Germline whole genome sequencing in pediatric oncology in Denmark—Practitioner perspectives

    Anna Byrjalsen, Ulrik K. Stoltze, Anders Castor & Ayo Wahlberg, 2020, In : Molecular Genetics and Genomic Medicine.

    Research output: Contribution to journalArticle

  3. 2019
  4. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

    Johanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, Wolfgang Hofmeister, Jia Cao, Daniel Nilsson, Gundela Holmdahl, Gillian Barker, Magnus Anderberg, Vladana Vukojević, Anna Lindstrand & Agneta Nordenskjöld, 2019, In : Molecular Genetics and Genomic Medicine. 7, 6, e666.

    Research output: Contribution to journalArticle

  5. 2014
  6. Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.

    Mev Dominguez, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels de Wind, Mef Nilbert & Lene Juel Rasmussen, 2014, In : Molecular Genetics & Genomic Medicine. 2, 4, p. 352-355

    Research output: Contribution to journalArticle

  7. Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

    Tobias Laurell, Daniel Nilsson, Wolfgang Hofmeister, Anna Lindstrand, Nadav Ahituv, Julia Vandermeer, Anders Amilon, Göran Annerén, Marianne Arner, Maria Pettersson, Nina Jäntti, HansE Rosberg, Peter A Cattini, Agneta Nordenskjöld, Outi Mäkitie, Giedre Grigelioniene & Ann Nordgren, 2014, In : Molecular Genetics & Genomic Medicine. 2, 5, p. 402-411

    Research output: Contribution to journalArticle