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Giuseppina Di Fruscio

Showing results (11-20 of 18) with videos related to

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American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophyFrancesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, et al.
Frontiers in Oncology|April 15, 2021
KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal CancerAlessandro Ottaiano, Guglielmo Nasti, Mariachiara Santorsola, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
American Journal of Medical Genetics. Part A|May 21, 2013
Familial trisomy 6p in mother and daughterMarco Savarese, Anna Grandone, Lucia Perone, et al.
European Journal of Human Genetics : EJHG|March 9, 2017
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophyFrancesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, et al.
Frontiers in Oncology|April 15, 2021
KRAS Mutational Regression Is Associated With Oligo-Metastatic Status and Good Prognosis in Metastatic Colorectal CancerAlessandro Ottaiano, Guglielmo Nasti, Mariachiara Santorsola, et al.
Neuromuscular Disorders : NMD|April 21, 2015
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsMarco Savarese, Giuseppina Di Fruscio, Giorgio Tasca, et al.
Neuromuscular Disorders : NMD|June 9, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe diseaseMarco Savarese, Annalaura Torella, Olimpia Musumeci, et al.
Muscle & Nerve|May 18, 2016
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosisFrancesca Magri, Vincenzo Nigro, Corrado Angelini, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Pageof 2