P589: Diagnostic yield of digital gene panel from genome sequencing in common multifactorial endocrine and metabolic disorders

Gelijkaardige items

• P775: Maternally inherited 11p15 duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling mild Russell-Silver syndrome phenotype
  door: Amanda Thomas-Wilson, et al.
  Gepubliceerd in: (2024-01-01)
• Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
  door: Mythily Ganapathi, et al.
  Gepubliceerd in: (2022-06-01)
• P764: RNA sequencing improves assessment of variants of uncertain significance from fetal genome and exome sequencing*
  door: Atteeq Rehman, et al.
  Gepubliceerd in: (2024-01-01)
• Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency
  door: Aliaa H. Abdelhakim, et al.
  Gepubliceerd in: (2020-11-01)
• O44: Genome sequencing as a first-tier prenatal diagnostic test
  door: Vaidehi Jobanputra, et al.
  Gepubliceerd in: (2024-01-01)