Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein

Míreanna Comhchosúla

• The Distribution of Disease-Associated Copy Number Variants Across Distinct Disorders of Cognitive Development
  le: Pescosolido, Matthew F., et al.
  Foilsithe: (2013)
• Complex Neurological Phenotype in Female Carriers of NHE6 Mutations
  le: Pescosolido, Matthew F., et al.
  Foilsithe: (2019)
• Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
  le: Gamsiz, Ece D., et al.
  Foilsithe: (2015)
• Genome-wide transcriptome analysis in murine neural retina using high-throughput RNA sequencing
  le: Gamsiz, Ece D., et al.
  Foilsithe: (2011)
• Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome
  le: Xu, Meiyu, et al.
  Foilsithe: (2018)