Publications

  1. A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.
    Mroczek M., Kabzińska D., Chrzanowska KH., Pronicki M., Kochański A.
    J Appl Genet. 2017, 58(2):199-203.
    Pubmed Abstract

  2. The effect of a novel c.820C>T (Arg274Trp) mutation in the mitofusin 2 gene on fibroblast metabolism and clinical manifestation in a patient.
    Beręsewicz M., Boratyńska-Jasińska A., Charzewski Ł., Kawalec M., Kabzińska D., Kochański A., Krzyśko KA., Zabłocka B.
    PLoS One. 2017, 12(1):e0169999.
    Pubmed Abstract

  3. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
    Fichna JP., Macias A., Piechota M., Korostyński M., Potulska-Chromik A., Redowicz MJ., Zekanowski C.
    Hum Genomics. 2018, 12(1):34.
    Pubmed Abstract