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Publications by Filippo M. Santorelli

Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2012English

VARS2-linked Mitochondrial Encephalopathy: Two Case Reports Enlarging the Clinical Phenotype

BMC Medical Genetics
Genetics
2019English

Congenital Myopathies: Clinical Phenotypes and New Diagnostic Tools

Italian Journal of Pediatrics
Child HealthPediatricsPerinatology
2017English

Mutations in GMPPB Presenting With Pseudometabolic Myopathy

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging

Cells
2020English

A Novel mtDNA Deletion Associated With Primary Adrenal Insufficiency.† 594

Pediatric Research
Child HealthPediatricsPerinatology
1997English

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