De novo mutations in PURA are associated with hypotonia and developmental delay

Những quyển sách tương tự

• De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism
  Bằng: Tanaka, Akemi J., et al.
  Được phát hành: (2017)
• De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
  Bằng: Berko, Esther R, et al.
  Được phát hành: (2016)
• De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism
  Bằng: Shang, Linshan, et al.
  Được phát hành: (2015)
• Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
  Bằng: Petrovski, Slavé, et al.
  Được phát hành: (2016)
• De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features
  Bằng: Webster, Emily, et al.
  Được phát hành: (2016)