СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ


E


ECTODERMAL DYSPLASIA
  • CANINE ECTODERMAL DYSPLASIA
      ◊ Mutation F0XI3
    EBOLA DISIEASE
  • protein VP40


    • ENDOMETRIOSIS
  • BIOMARKERS
      ◊ Endometriosis
      ◊ Biomarkers of endometriosis
    • Emery-Dreifuss Muscular Dystrophy
  • Role of emerin


    • ENDOMETRIAL CANCER
  • Production and Role of Nitric Oxide in Endometrial Cancer


    • EPIGENETIC DISEASES
  • RETT SYNDROME
      ◊ Role of MeCP2
  • WOMEN EPILEPSIES
      ◊ Women With Genetic Epilepsies
    EPILEPSIA
  • DEVELOPMENTAL and EPILEPTIC ENCEPHALOPATHIES Genetic Testing in Children with Developmental and Epileptic Encephalopathies The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options
  • Secondary focus Brain Inflammation The role of glial cells in focal malformations associated with early onset epilepsies Classification of Current Experimental Models of Epilepsy
  • BIOLOGICAL BASIS OF CONTROL ENERGY
      ◊ Structural and metabolic correlates of energy inefficiency in temporal lobe epilepsy


  • CYTOGENOMIC EPILEPTOLOGY
      ◊ Cytogenomic epileptology


  • GENETICS
      ◊ Genetics
      ◊ Role GM3 synthase
      ◊ Role 2-Deoxy-D-glucose
      ◊ Role PAR bZIP


    •   ◊ Human Epilepsy Gene Discovery
    ESOPHAGEAL ARTESIA WITH TRACHEOESOPHAGEAL FISTULA
  • Pathogenesis and Genetics EXOSTOSES
  • HEREDITARY MULTIPLE
      ◊ Heparan sulfate
    EYE DEVELOPMENTAL DEFECTS
  • PATHOGENESIS and GENETICS
      ◊ATOH7
      ◊ SIX6 mutation