Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

Παρόμοια τεκμήρια

• Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
  ανά: Berta Almoguera, κ.ά.
  Έκδοση: (2015-01-01)
• Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned
  ανά: Almoguera, Berta, κ.ά.
  Έκδοση: (2015)
• Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes
  ανά: Almoguera, Berta, κ.ά.
  Έκδοση: (2014)
• Machine learning derived risk prediction of anorexia nervosa
  ανά: Guo, Yiran, κ.ά.
  Έκδοση: (2016)
• The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
  ανά: Robusto, Michela, κ.ά.
  Έκδοση: (2015)