All Stories

  1. Breast cancer in an 18-year-old female: A fatal case report and literature review

    Article • Cancer Biology & Therapy, May 2018, Taylor & Francis

    Mrs Renata Posmyk

  2. Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Article • European Journal of Medical Genetics, May 2015, Elsevier

    Mrs Renata Posmyk

  3. Heterogenność kliniczna i genetyczna dyzostoz twarzowych

    Article • Pediatria Polska, January 2015, Elsevier

    Mrs Renata Posmyk

  4. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF gene

    Article • European Journal of Medical Genetics, January 2015, Elsevier

    Mrs Renata Posmyk

  5. Mutations in ZBTB20 cause Primrose syndrome

    Article • Nature Genetics, July 2014, Springer Science + Business Media

    Mrs Renata Posmyk

  6. Contribution ofRIT1mutations to the pathogenesis of Noonan syndrome: Four new cases and further evidence of heterogeneity

    Article • American Journal of Medical Genetics Part A, June 2014, Wiley

    Mrs Renata Posmyk

  7. The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

    Article • American Journal of Medical Genetics Part A, January 2014, Wiley

    Mrs Renata Posmyk

  8. Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Article • The American Journal of Human Genetics, December 2013, Elsevier

    Mrs Renata Posmyk, Dr Mark T Handley

  9. New case of Primrose syndrome with mild intellectual disability

    Article • American Journal of Medical Genetics Part A, September 2011, Wiley

    Mrs Renata Posmyk

  10. Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter

    Article • American Journal of Medical Genetics Part A, July 2011, Wiley

    Mrs Renata Posmyk

  11. The natural history of Möbius syndrome in a 32-year-old man

    Article • Neurologia i Neurochirurgia Polska, January 2011, Elsevier

    Mrs Renata Posmyk

  12. L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

    Article • Neurogenetics, March 2010, Springer Science + Business Media

    Mrs Renata Posmyk