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Giangiorgio Crisponi

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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses

2019 Clinical Genetics
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New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy

2016 Clinica Chimica Acta
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Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease

2011 F1000Research
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