Contiguous mutation syndrome in the era of high-throughput sequencing

Antzeko izenburuak

• Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population
  nork: Megahed, Hisham, et al.
  Argitaratua: (2016)
• Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects
  nork: Mircsof, Dennis, et al.
  Argitaratua: (2015)
• Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance
  nork: Egloff, Matthieu, et al.
  Argitaratua: (2018)
• Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation
  nork: Philippe, Orianne, et al.
  Argitaratua: (2009)
• Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction
  nork: Amiel, Jeanne, et al.
  Argitaratua: (2007)