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

مواد مشابهة

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