Publications by authors named "G Ciana"

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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
Stefania Zampieri, Silvia Cattarossi, Eleonora Pavan, Antonio Barbato, Agata Fiumara, Giovanni Ciana

Int J Mol Sci· May 2021

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and effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
Giovanni Ciana, Andrea Dardis, Eleonora Pavan, Rosalia Maria Da Riol, Jessica Biasizzo

Mol Genet Metab Rep· December 2020

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Value of the Rare Disease Registry of the Italian Region Friuli Venezia Giulia.
Francesca Valent, Laura Deroma, Alessandro Moro, Giovanni Ciana, Paolo Martina

Value Health· September 2019

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Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
Andrea Dardis, Annalisa Pianta, Stefania Zampieri, Irene Zanin, Marta Bertoli, Giovanni Ciana

Clin Genet· February 2019

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Chronic pain in Gaucher disease: skeletal or neuropathic origin?
Grazia Devigili, Michele De Filippo, Giovanni Ciana, Andrea Dardis, Christian Lettieri

Orphanet J Rare Dis· August 2017

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