SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India

समान संसाधन

• Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
  द्वारा: Christian Gatz, और अन्य
  प्रकाशित: (2019-06-01)
• Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
  द्वारा: Gatz, Christian, और अन्य
  प्रकाशित: (2019)
• Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease
  द्वारा: Jauhari, Prashant, और अन्य
  प्रकाशित: (2017)
• Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region
  द्वारा: Nair, Pratibha, और अन्य
  प्रकाशित: (2016)
• In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome
  द्वारा: Kollipara, Laxmikanth, और अन्य
  प्रकाशित: (2017)