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Publications en 2014

Peer-reviewed publications in International Journals

[2-PPO14]

Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Ashok Vellodi, Blanca Gener, Isabel Liano-Rivas, Jamal Raza, Irum Aatta, Paolo Vezzoni, Andrea Superti-Fuga, Anna Villa, Cristina Sobacchi

Bone Elsevier pages 122-126 vol. 59 num. 59 - february 2014 doi: 10.1016/j.bone.2013.11.014

Publications en 2013

Peer-reviewed publications in International Journals

[2-PFS13]

SNX10 mutations define a subgroup of human Autosomal Recessive Osteopetrosis with variable clinical severity.

Alessandra Pangrazio, Anders Fasth, Andrea Sbardellati, Paul J. Orchard, Kimberly A. Kasow, Jamal Raza, Canan Albayrak, Davut Albayrak, Olivier M. Vanakker, Barbara De Moerloose, Ashok Vellodi, Luigi D. Notarangelo, Claire Schlack, Gabriele Strauss, Jorn-Sven Kuhl, Elena Caldana, Nadia Lo Iacono, Lucia Susani, Uwe Kornak, Ansgar Schulz, Paolo Vezzoni, Anna Villa, Cristina Sobacchi

Journal of Bone and Mineral Research Wiley pages 1041–1049 vol. 28 num. 5 - april 2013 doi: 10.1002/jbmr.1849

2 publications Download the selection