SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Lignende værker

• Delayed Recognition of Disorders of Sex Development (DSD): A Missed Opportunity for Early Diagnosis of Malignant Germ Cell Tumors
  af: Hersmus, Remko, et al.
  Udgivet: (2012)
• A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma
  af: Hersmus, Remko, et al.
  Udgivet: (2009)
• A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
  af: Remko Hersmus, et al.
  Udgivet: (2012-01-01)
• A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
  af: Hersmus, Remko, et al.
  Udgivet: (2012)
• Prevalence of c-KIT Mutations in Gonadoblastoma and Dysgerminomas of Patients with Disorders of Sex Development (DSD) and Ovarian Dysgerminomas
  af: Hersmus, Remko, et al.
  Udgivet: (2012)