debora-r-bertola documents

Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
Documents Are Noonan syndrome and Noonan-like/multiple giant cell lesion syndrome distinct entities?
Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
Documents Neurofibromatosis–Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient
Acro-oto-ocular syndrome: Further evidence for a new autosomal recessive disorder
Documents Acro-oto-ocular syndrome: Further evidence for a new autosomal recessive disorder
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
Documents The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia