All Stories

  1. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome
  2. The algorithm for Alzheimer risk assessment based on APOE promoter polymorphisms
  3. Chronic Kidney Disease in Wilms Tumour Survivors – What Do We Know Today?
  4. Glomerulopathy in patients with distal duplication of chromosome 6p
  5. ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
  6. Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
  7. Mild phenotype of a large partial 13q trisomy
  8. Genotype–phenotype associations in WT1 glomerulopathy
  9. Original article Proliferation index revisited in neuroblastic tumors
  10. NPHS2Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum
  11. Primary leiomyosarcoma of the mesentery in two sisters: clinical and molecular characteristics
  12. On the significance of germline cytogenetic rearrangements at MYCN locus in neuroblastoma
  13. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
  14. NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome
  15. Cornelia de Lange syndrome associated with a de-novo novel NIPBL splice-site mutation and a coincidental inherited translocation t(3;5)(p13;q11)
  16. c.1810C>T Polymorphism of NTRK1Gene is associated with reduced Survival in Neuroblastoma Patients
  17. Współistnienie zespołów Edwardsa i Klinefeltera – opis przypadku i przegląd literatury
  18. Infekcyjne zapalenie wsierdzia