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Anna Sarkozy

Showing results (81-90 of 137) with videos related to

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Frontiers in Pediatrics|June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric CohortLaia Brunet Garcia, Ankita Hajra, Ella Field, et al.
Neuromuscular Disorders : NMD|January 17, 2021
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2Renske I Wadman, Ramona De Amicis, Chiara Brusa, et al.
Chest|May 11, 2020
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal StudyFederica Trucco, Joana P Domingos, Chee Geap Tay, et al.
Neuromuscular Disorders : NMD|June 24, 2025
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathyJuliane S Müller, Shira Rabinowicz, Irina Zaharieva, et al.
Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Annals of Clinical and Translational Neurology|October 10, 2020
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trialsArpana Silwal, Anna Sarkozy, Mariacristina Scoto, et al.
Pageof 14

Showing results (81-90 of 137) with videos related to

Sort By:
Pageof 14
Frontiers in Pediatrics|June 27, 2022
Cardiac Manifestations of Myotonic Dystrophy in a Pediatric CohortLaia Brunet Garcia, Ankita Hajra, Ella Field, et al.
Neuromuscular Disorders : NMD|January 17, 2021
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2Renske I Wadman, Ramona De Amicis, Chiara Brusa, et al.
Chest|May 11, 2020
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal StudyFederica Trucco, Joana P Domingos, Chee Geap Tay, et al.
Neuromuscular Disorders : NMD|June 24, 2025
Multi-omics approach identifies a novel recessive pathogenic variant in the TNNT3 gene in two siblings with congenital myopathyJuliane S Müller, Shira Rabinowicz, Irina Zaharieva, et al.
Neuromuscular Disorders : NMD|August 23, 2018
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspectsUrielle Ullmann, Luigi D'Argenzio, Shrey Mathur, et al.
American Journal of Human Genetics|December 29, 2005
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndromeAlessandro De Luca, Irene Bottillo, Anna Sarkozy, et al.
Neuromuscular Disorders : NMD|December 7, 2010
Infantile onset myofibrillar myopathy due to recessive CRYAB mutationsKatharine M L Forrest, Safa Al-Sarraj, Caroline Sewry, et al.
Neuromuscular Disorders : NMD|July 10, 2017
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year periodMaria Sframeli, Anna Sarkozy, Marta Bertoli, et al.
Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.
Annals of Clinical and Translational Neurology|October 10, 2020
Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trialsArpana Silwal, Anna Sarkozy, Mariacristina Scoto, et al.
Pageof 14