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  • Francesca Lepri, Alessandro De Luca, +27 authors Marco Tartaglia
  • Medicine, Biology
  • Human mutation
  • 2011 (First Publication: 8 March 2011)
  • Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains,Expand
  • Giacomina Brunetti, Maria Felicia Faienza, +11 authors Maria Grano
  • Biology, Medicine
  • American journal of physiology. Endocrinology and…
  • 2013 (First Publication: 1 March 2013)
  • Children with 21-hydroxylase deficiency (21-OHD) need chronic glucocorticoid (cGC) therapy to replace congenital deficit of cortisol synthesis, and this therapy is the most frequent and severe formExpand
  • Carlo Colombo, Maurizio Delvecchio, +4 authors The Early Onset Diabetes Study Group of the Italian So Diabetology
  • Medicine, Biology
  • Diabetologia
  • 2005 (First Publication: 1 November 2005)
  • To the Editor: Neonatal diabetes mellitus (NDM) is a rare, monogenic form of diabetes currently defined as insulinrequiring hyperglycaemia within the first 3 months of life [1]. Neonatal diabetes canExpand