Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)

Antzeko izenburuak

• Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
  nork: Shanks, M, et al.
  Argitaratua: (2013)
• Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
  nork: Shanks, M, et al.
  Argitaratua: (2013)
• Current management of inherited retinal degenerations in Portugal (IRD-PT survey)
  nork: João Pedro Marques, et al.
  Argitaratua: (2024-09-01)
• Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia
  nork: Kwasniewska, A, et al.
  Argitaratua: (2011)
• Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS)
  nork: Nemeth, A, et al.
  Argitaratua: (2012)