P712: Genetic findings in over 500 individuals tested with a spastic paraplegia gene panel

Eitemau Tebyg

• P712: Genetic findings in over 500 individuals tested with a spastic paraplegia gene panel
  gan: Allison Sluyters, et al.
  Cyhoeddwyd: (2025-01-01)
• P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels
  gan: Lotta Koskinen, et al.
  Cyhoeddwyd: (2024-01-01)
• P577: Genetic findings in afor cohort of over 1,800 patients tested with a combined cardiomyopathy and arrhythmia panel*
  gan: Julie Hathaway, et al.
  Cyhoeddwyd: (2024-01-01)
• P554: A case series of 17 patients with VEXAS syndrome due to UBA1 Met41 variants
  gan: Alicia Scocchia, et al.
  Cyhoeddwyd: (2023-01-01)
• Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
  gan: Kimberly Gall, et al.
  Cyhoeddwyd: (2021-01-01)