All Stories

  1. Gene Conversion Between Cationic Trypsinogen (PRSS1 ) and the Pseudogene Trypsinogen 6 (PRSS3P2 ) in Patients with Chronic Pancreatitis

    Article • Human Mutation, March 2015, Wiley

    Dr Katarzyna Wertheim-Tysarowska

  2. Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

    Article • Journal of Applied Genetics, January 2015, Springer Science + Business Media

    Dr Katarzyna Wertheim-Tysarowska, Dr Anna Kutkowska-Kazmierczak

  3. Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

    Article • British Journal of Dermatology, October 2014, Oxford University Press (OUP)

    Dr Katarzyna Wertheim-Tysarowska

  4. NovelKRT14mutation causing epidermolysis bullosa simplex with variable phenotype

    Article • Experimental Dermatology, September 2014, Wiley

    Dr Katarzyna Wertheim-Tysarowska

  5. 19 Newborn screening for cystic fibrosis – Polish experience with CFTR sequencing strategy

    Article • Journal of Cystic Fibrosis, June 2014, Elsevier

    Dr Katarzyna Wertheim-Tysarowska

  6. Coexistence of KRT 14 and KRT 5 mutations in a P ...

    Article • British Journal of Dermatology, February 2014, Oxford University Press (OUP)

    Dr Katarzyna Wertheim-Tysarowska, Dr Anna Kutkowska-Kazmierczak

  7. Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011

    Article • American Journal of Medical Genetics Part A, September 2012, Wiley

    Dr Katarzyna Wertheim-Tysarowska

  8. Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

    Article • European Journal of Human Genetics, August 2012, Springer Science + Business Media

    Dr Katarzyna Wertheim-Tysarowska

  9. Molekularne podłoże keratynopatii

    Article • Pediatria Polska, July 2012, Elsevier

    Dr Katarzyna Wertheim-Tysarowska

  10. 2 The syndrome of exocrine pancreatic insufficiency – cystic fibrosis or other disease?

    Article • Journal of Cystic Fibrosis, June 2012, Elsevier

    Dr Katarzyna Wertheim-Tysarowska

  11. WS21.5 Newborn screening for cystic fibrosis – Polish four years’ experience with CFTR sequencing strategy

    Article • Journal of Cystic Fibrosis, June 2012, Elsevier

    Dr Katarzyna Wertheim-Tysarowska

  12. The COL7A1 mutation database

    Article • Human Mutation, December 2011, Wiley

    Dr Katarzyna Wertheim-Tysarowska

  13. Novel de Novo Large Deletion in Cystic Fibrosis Transmembrane Conductance Regulator Gene Results in a Severe Cystic Fibrosis Phenotype

    Article • The Journal of Pediatrics, August 2011, Elsevier

    Dr Katarzyna Wertheim-Tysarowska

  14. A novel de novo CFTR mutation in a Polish CF patient

    Article • Journal of Cystic Fibrosis, June 2010, Elsevier

    Dr Katarzyna Wertheim-Tysarowska