Laboratorio per l’analisi delle mutazioni

Pubblicazioni Scientifiche

• 2007 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Research review oral-facial-digital syndromes: Review and diagnostic guidelines

• 2007 MOLECULAR BIOLOGY OF THE CELL

  Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with Subunits of a chromatin remodeling complex

• 2008 JOURNAL OF MEDICAL GENETICS

  Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

• 2007 AMERICAN JOURNAL OF MEDICAL GENETICS PART A

  Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family