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Showing results (1321-1330 of 1,344) with videos related to

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The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Revue Neurologique|August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]V Humbertclaude, D Hamroun, M-C Picot, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
BMC Public Health|November 29, 2025
U.S. public perceptions on whether risk of dementia and stroke can be modified through maintaining or changing lifestyleJasper R Senff, Mark Jun Shah-Ostrowski, Reinier W P Tack, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Pageof 135

Showing results (1321-1330 of 1,344) with videos related to

Sort By:
Pageof 135
The New England Journal of Medicine|June 23, 2021
Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansJack J Collier, Claire Guissart, Monika Oláhová, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Revue Neurologique|August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]V Humbertclaude, D Hamroun, M-C Picot, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
Annals of Neurology|October 27, 2010
Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Briñas, Pascale Richard, Susana Quijano-Roy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 27, 2025
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxiaMehdi Benkirane, Cecilia Marelli, Ariane Choumert, et al.
Neurology|January 20, 2019
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementEmmanuelle Lagrue, Céline Dogan, Marie De Antonio, et al.
BMC Public Health|November 29, 2025
U.S. public perceptions on whether risk of dementia and stroke can be modified through maintaining or changing lifestyleJasper R Senff, Mark Jun Shah-Ostrowski, Reinier W P Tack, et al.
HGG Advances|July 9, 2026
ALG14 Variants Contribute to a Congenital Disorder of Glycosylation Characterized by Congenital Myasthenia and EpilepsyJonathan Marquez, Flavien Rouxel, Fatima E It, et al.
Annals of Neurology|June 10, 2019
Autism and developmental disability caused by KCNQ3 gain-of-function variantsTristan T Sands, Francesco Miceli, Gaetan Lesca, et al.
Pageof 135