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Federica Consoli

Showing results (1-10 of 24) with videos related to

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Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 10, 2019
Paroxysmal Dyskinesias in a <i>PRRT2</i> Mutation CarrierMassimo Marano, Francesco Motolese, Federica Consoli, et al.
Parkinsonism & Related Disorders|April 28, 2023
A novel ANO3 variant in two siblings with different phenotypesMarcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, et al.
Journal of Neurogenetics|November 13, 2015
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomyFrancesco Nicita, Giacomo Garone, Laura Papetti, et al.
Fetal and Pediatric Pathology|April 21, 2012
"Double trouble" or an amplification of the triploidy phenotype?Kathrin Ludwig, Marco Pizzi, Matteo Fassan, et al.
Archives of Oral Biology|April 24, 2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patientsKatia Margiotti, Giulia Pascolini, Federica Consoli, et al.
International Journal of Molecular Sciences|February 11, 2021
A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (<i>HTT</i>)Alessandro De Luca, Annunziata Morella, Federica Consoli, et al.
International Journal of Cardiology|March 20, 2009
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in manAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2013
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigreesAntonio E Elia, Simona Petrucci, Alfonso Fasano, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Stem Cell Research|January 18, 2018
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington DiseaseJessica Rosati, Eris Bidollari, Giovannina Rotundo, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 10, 2019
Paroxysmal Dyskinesias in a <i>PRRT2</i> Mutation CarrierMassimo Marano, Francesco Motolese, Federica Consoli, et al.
Parkinsonism & Related Disorders|April 28, 2023
A novel ANO3 variant in two siblings with different phenotypesMarcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, et al.
Journal of Neurogenetics|November 13, 2015
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomyFrancesco Nicita, Giacomo Garone, Laura Papetti, et al.
Fetal and Pediatric Pathology|April 21, 2012
"Double trouble" or an amplification of the triploidy phenotype?Kathrin Ludwig, Marco Pizzi, Matteo Fassan, et al.
Archives of Oral Biology|April 24, 2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patientsKatia Margiotti, Giulia Pascolini, Federica Consoli, et al.
International Journal of Molecular Sciences|February 11, 2021
A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (<i>HTT</i>)Alessandro De Luca, Annunziata Morella, Federica Consoli, et al.
International Journal of Cardiology|March 20, 2009
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in manAlessandro De Luca, Anna Sarkozy, Federica Consoli, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 8, 2013
Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigreesAntonio E Elia, Simona Petrucci, Alfonso Fasano, et al.
European Journal of Medical Genetics|December 11, 2012
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosisMaria Cecilia D'Asdia, Isabella Torrente, Federica Consoli, et al.
Stem Cell Research|January 18, 2018
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington DiseaseJessica Rosati, Eris Bidollari, Giovannina Rotundo, et al.
Pageof 3