Showing results for: kraniosynostoza   Total: 8

  1. Saethre-Chotzen Syndrome

    Mutational screening of the TWIST gene (50% of all causative mutations); sequencing of exon …

    czytaj więcej »
  2. Saethre-Chotzen Syndrome

    Sequencing analysis of exon 7 of FGFR3 gene

    czytaj więcej »
  3. Pfeiffer Syndrome

    Sequencing analysis of the FGFR1 (exon 5) gene

    czytaj więcej »
  4. Pfeiffer Syndrome

    Sequencing analysis of the FGFR2 gene (two exons with common mutations)

    czytaj więcej »
  5. Muenke Syndrome

    Sequencing analysis of the FGFR3 gene

    czytaj więcej »
  6. APERT-CROUZON DISEASE

    Sequencing analysis of the FGFR2 (e3a, e3c) gene - 2 common mutations p.S252W i p.P253R

    czytaj więcej »
  7. Crouzon Syndrome

    Sequencing analysis of the FGFR2 gene (3a and 3c exons).

    czytaj więcej »
  8. CRANIOFRONTONASAL SYNDROME

    Sequencing analysis of the EFNB1gene

    czytaj więcej »