P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome

Lignende værker

• P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome
  af: Liesbeth Vossaert, et al.
  Udgivet: (2024-01-01)
• P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly
  af: Nichole Owen, et al.
  Udgivet: (2024-01-01)
• P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy
  af: Casey Thornton, et al.
  Udgivet: (2023-01-01)
• P439: A supernumerary ring 9 chromosome detected in a case with ring X variant turner syndrome
  af: Matthew Hoi Kin Chau, et al.
  Udgivet: (2023-01-01)
• P700: Heterozygous deletion of valine at position 2321 of RYR2 in two siblings with sudden cardiac death
  af: Eric Kao, et al.
  Udgivet: (2024-01-01)