All Stories

  1. Epidermolysis Bullosa and Rickets in a 21-Year-Old Female: A Case Report
  2. Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation
  3. Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia
  4. Current practice for genetic counselling by nurses: An integrative review
  5. Functional characterization of novel NR5A1  variants reveals multiple complex roles in disorders of sex development