Molecular Genetics & Genomic Medicine, 2324-9269

Tidskrift

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

    Byrjalsen, A., Stoltze, U. K., Anders Castor & Wahlberg, A., 2020, I : Molecular Genetics and Genomic Medicine.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Lundin, J., Markljung, E., Baranowska Körberg, I., Hofmeister, W., Cao, J., Nilsson, D., Holmdahl, G., Barker, G., Magnus Anderberg, Vukojević, V., Lindstrand, A. & Nordenskjöld, A., 2019, I : Molecular Genetics and Genomic Medicine. 7, 6, e666.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Dominguez, M., Drost, M., Therkildsen, C., Rambech, E., Hans Ehrencrona, Angleys, M., Lau Hansen, T., de Wind, N., Mef Nilbert & Juel Rasmussen, L., 2014, I : Molecular Genetics & Genomic Medicine. 2, 4, s. 352-355

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Laurell, T., Nilsson, D., Hofmeister, W., Lindstrand, A., Ahituv, N., Vandermeer, J., Amilon, A., Annerén, G., Arner, M., Pettersson, M., Jäntti, N., HansE Rosberg, Cattini, P. A., Nordenskjöld, A., Mäkitie, O., Grigelioniene, G. & Nordgren, A., 2014, I : Molecular Genetics & Genomic Medicine. 2, 5, s. 402-411

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift