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Giuseppina Di Fruscio

Showing results (1-10 of 18) with videos related to

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Methods in Molecular Biology (Clifton, N.J.)|May 1, 2017
Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlexGiuseppina Di Fruscio, Sandro Banfi, Vincenzo Nigro, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Giuseppina Di Fruscio, Arcomaria Garofalo, Margherita Mutarelli, et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology|July 17, 2014
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experimentsMaria Brigida Ferraro, Marco Savarese, Giuseppina Di Fruscio, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia|May 1, 2018
[Next Generation Sequencing and ADPKD]Arianna Restivo, Giuseppina Di Fruscio, Cristina Masella, et al.
Muscle & Nerve|August 6, 2014
Dominant muscular dystrophy with a novel SYNE1 gene mutationMarina Fanin, Marco Savarese, Anna C Nascimbeni, et al.
Acta Neuropathologica Communications|September 13, 2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samplesMarco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, et al.
Autophagy|June 16, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathwayGiuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, et al.
Genes|October 21, 2017
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal DystrophiesValentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, et al.
Ophthalmic Genetics|July 10, 2013
Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infantMarco Savarese, Elide Spinelli, Federico Gandolfo, et al.
Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Pageof 2

Showing results (1-10 of 18) with videos related to

Sort By:
Pageof 2
Methods in Molecular Biology (Clifton, N.J.)|May 1, 2017
Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlexGiuseppina Di Fruscio, Sandro Banfi, Vincenzo Nigro, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Giuseppina Di Fruscio, Arcomaria Garofalo, Margherita Mutarelli, et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology|July 17, 2014
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experimentsMaria Brigida Ferraro, Marco Savarese, Giuseppina Di Fruscio, et al.
Giornale Italiano Di Nefrologia : Organo Ufficiale Della Societa Italiana Di Nefrologia|May 1, 2018
[Next Generation Sequencing and ADPKD]Arianna Restivo, Giuseppina Di Fruscio, Cristina Masella, et al.
Muscle & Nerve|August 6, 2014
Dominant muscular dystrophy with a novel SYNE1 gene mutationMarina Fanin, Marco Savarese, Anna C Nascimbeni, et al.
Acta Neuropathologica Communications|September 13, 2014
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samplesMarco Savarese, Giuseppina Di Fruscio, Margherita Mutarelli, et al.
Autophagy|June 16, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathwayGiuseppina Di Fruscio, Angela Schulz, Rossella De Cegli, et al.
Genes|October 21, 2017
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal DystrophiesValentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, et al.
Ophthalmic Genetics|July 10, 2013
Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infantMarco Savarese, Elide Spinelli, Federico Gandolfo, et al.
Plos One|January 4, 2013
Enhancer chip: detecting human copy number variations in regulatory elementsMarco Savarese, Giulio Piluso, Daniela Orteschi, et al.
Pageof 2