Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity

Lignende værker

• Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease
  af: Farris, Joseph, et al.
  Udgivet: (2021)
• Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice
  af: Alam, Md. Suhail, et al.
  Udgivet: (2018)
• Plasma Signature of Neurological Disease in the Monogenetic Disorder Niemann-Pick Type C
  af: Alam, Md. Suhail, et al.
  Udgivet: (2014)
• Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
  af: Ricci, Giulia, et al.
  Udgivet: (2013)
• Generation of three induced pluripotent stem cell lines from a patient with Kabuki syndrome carrying the KMT2D p.R4198X mutation
  af: Tyson W. Lager, et al.
  Udgivet: (2022-07-01)