Concepedia

Andrea Dardis

AD

2

Publications

66

Citations

2

H-Index

2008

Active since

Affiliations

IRCCS Materno Infantile Burlo Garofolo(Current)

Ospedale Santa Maria della Misericordia di Udine

Andrea Dardis is an author at IRCCS Materno Infantile Burlo Garofolo specializing in medicine, lysosomal storage disease, and genomics.

Top concepts

GeneticsGenomicsMedicinePathologyMolecular GeneticsMolecular DiagnosticsLysosomal Storage DiseasePathogenesisRna SplicingFunctional Genomics

Publications per year

2008–2010

2

Publications

2

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (<i>GNPTG</i>) gene in patients with mucolipidosis III gamma

Emanuele Persichetti, Nadia Chuzhanova, Andrea Dardis et al. · Human Mutation · 2008 · 36 citations

Genetics, Pathology, Molecular Genetics +19

Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes

Stefania Zampieri, Emanuele Buratti, Silvia Dominissini et al. · European Journal of Human Genetics · 2010 · 30 citations · Full text

Full Spectrum, Genetic Disorder, Medicine +12

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