P339: Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing

Slični predmeti

• P339: Whole genome sequencing identifies biallelic variants in newly described EMC10-related neurodevelopmental disorder not detected by prior genetic testing
  od: Jerica Lenberg, i dr.
  Izdano: (2024-01-01)
• P369: Clinical genome sequencing in the neurodevelopmental clinic: A single center experience
  od: Kristen Wigby, i dr.
  Izdano: (2025-01-01)
• Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disordersResearch in context
  od: Kuokuo Li, i dr.
  Izdano: (2024-01-01)
• P287: Wilms tumor in a patient with FBXW7-related neurodevelopmental syndrome
  od: Yoko Saito, i dr.
  Izdano: (2023-01-01)
• P500: Expanding the phenotype of newly described ZBTB47-related neurodevelopmental disorder
  od: Alice Zalan, i dr.
  Izdano: (2025-01-01)