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Eleonora Pavan
Eleonora Pavan
Gene
Biology
Mutation
Dominance (genetics)
Medicine
5
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28
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Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier Test.
2021
International Journal of Molecular Sciences
Stefania Zampieri
Silvia Cattarossi
Eleonora Pavan
Antonio Barbato
Agata Fiumara
Paolo Peruzzo
Maurizio Scarpa
Giovanni Ciana
Andrea Dardis
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Plasma Neurofilament Light (NfL) in Patients Affected by Niemann–Pick Type C Disease (NPCD)
2021
Journal of Clinical Medicine
Andrea Dardis
Eleonora Pavan
Martina Fabris
Rosalia Maria Da Riol
Annalisa Sechi
Agata Fiumara
Lucia Santoro
Maximiliano Ormazábal
Romina Milanič
Stefania Zampieri
Jessica Biasizzo
Maurizio Scarpa
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CRISPR/Cas9 Editing for Gaucher Disease Modelling.
2020
International Journal of Molecular Sciences
Eleonora Pavan
Maximiliano Ormazábal
Paolo Peruzzo
Emilio Vaena
Paula Rozenfeld
Andrea Dardis
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Citations (4)
In vitro and in vivo effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.
2020
Molecular genetics and metabolism reports
Giovanni Ciana
Andrea Dardis
Eleonora Pavan
Rosalia Maria Da Riol
Jessica Biasizzo
Dania Ferino
Manuela Zanatta
Antonella Boni
Luisa Antonini
Giovanni Crichiutti
Bruno Bembi
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Citations (2)
Molecular genetics of Pompe disease: a comprehensive overview
2019
Annals of Translational Medicine
Paolo Peruzzo
Eleonora Pavan
Andrea Dardis
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Citations (22)
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