Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

Lignende værker

• Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies
  af: Eglė Preikšaitienė, et al.
  Udgivet: (2016)
• Challenges in exome analysis by LifeScope and its alternative computational pipelines
  af: Pranckevičiene, Erinija, et al.
  Udgivet: (2015)
• Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
  af: Diaz-Horta, Oscar, et al.
  Udgivet: (2012)
• Correction: Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
  af: Diaz-Horta, Oscar, et al.
  Udgivet: (2013)
• Whole-exome sequencing identifies TRIM72 as a candidate gene for autosomal recessive limb-girdle muscular dystrophy
  af: Abdelaziz Tlili, et al.
  Udgivet: (2025-08-01)