Frattini, Annalisa

Top Publications

Top Publications Authored or Co-Authored by "Frattini, Annalisa"

• Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: Report of 20 novel mutations

  Human Mutation, Volume 31, No. 1, Year 2010, Citations 84
• Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis

  European Journal of Medical Genetics, Volume 50, No. 3, Year 2007, Citations 30
• Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

  Journal of Bone and Mineral Research, Volume 21, No. 7, Year 2006, Citations 14
• Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease

  Ultrastructural Pathology, Volume 31, No. 5, Year 2007, Citations 14
• A new familial sclerosing bone dysplasia

  Journal of Bone and Mineral Research, Volume 25, No. 3, Year 2010, Citations 12