Monogenic disease

Articles

• Alstrom syndrome
  21 January 2006
• 3-hydroxyisobutyrate aciduria
  11 May 2005
• SMARCB1-associated familial schwannomatosis
  29 April 2007
• hypertrophy of the retinal pigment epithelium
  19 January 2006
• short-rib polydactyly syndrome type 3
  17 May 2006
• CHARGE association
  20 September 2004
• nephronophtisis
  17 July 2008, by JA
• Sandhoff disease
  4 June 2006
• short rib-polydactyly syndrome type 4
  24 February 2006
• KCNJ11-associated hyperinsulinism
  25 January 2010

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