Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Παρόμοια τεκμήρια

• Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
  ανά: Thomas, Anna C., κ.ά.
  Έκδοση: (2014)
• STAG3 truncating variant as the cause of primary ovarian insufficiency
  ανά: Le Quesne Stabej, Polona, κ.ά.
  Έκδοση: (2016)
• The use of whole-exome sequencing to disentangle complex phenotypes
  ανά: Williams, Hywel J, κ.ά.
  Έκδοση: (2016)
• An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes
  ανά: Le Quesne Stabej, Polona, κ.ά.
  Έκδοση: (2017)
• SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  ανά: Bryant, Dale, κ.ά.
  Έκδοση: (2018)