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Edgard Verdura

Showing results (1-10 of 28) with videos related to

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European Journal of Human Genetics : EJHG|July 16, 2015
Can whole-exome sequencing data be used for linkage analysis?Steven Gazal, Simon Gosset, Edgard Verdura, et al.
Journal of Medical Genetics|October 7, 2019
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaEdgard Verdura, Carme Fons, Agatha Schlüter, et al.
Frontiers in Psychiatry|October 18, 2021
Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based TreatmentsEdgard Verdura, Laura Pérez-Cano, Rubén Sabido-Vera, et al.
Plos One|August 19, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsJonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, et al.
Journal of Medical Genetics|April 21, 2019
A novel mutation in the <i>GFAP</i> gene expands the phenotype of Alexander diseaseCarlos Casasnovas, Edgard Verdura, Valentina Vélez, et al.
Journal of Medical Genetics|August 30, 2022
Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescenceEdgard Verdura, Bruno Senger, Miquel Raspall-Chaure, et al.
Annals of Clinical and Translational Neurology|December 20, 2019
A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesEdgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate, et al.
Annals of Clinical and Translational Neurology|November 27, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophyAgustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura, et al.
Plos One|March 29, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypesJonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, et al.
Brain : a Journal of Neurology|June 12, 2015
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel diseaseEdgard Verdura, Dominique Hervé, Eva Scharrer, et al.
Pageof 3

Showing results (1-10 of 28) with videos related to

Sort By:
Pageof 3
European Journal of Human Genetics : EJHG|July 16, 2015
Can whole-exome sequencing data be used for linkage analysis?Steven Gazal, Simon Gosset, Edgard Verdura, et al.
Journal of Medical Genetics|October 7, 2019
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaEdgard Verdura, Carme Fons, Agatha Schlüter, et al.
Frontiers in Psychiatry|October 18, 2021
Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based TreatmentsEdgard Verdura, Laura Pérez-Cano, Rubén Sabido-Vera, et al.
Plos One|August 19, 2015
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsJonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, et al.
Journal of Medical Genetics|April 21, 2019
A novel mutation in the <i>GFAP</i> gene expands the phenotype of Alexander diseaseCarlos Casasnovas, Edgard Verdura, Valentina Vélez, et al.
Journal of Medical Genetics|August 30, 2022
Loss of seryl-tRNA synthetase (<i>SARS1</i>) causes complex spastic paraplegia and cellular senescenceEdgard Verdura, Bruno Senger, Miquel Raspall-Chaure, et al.
Annals of Clinical and Translational Neurology|December 20, 2019
A deep intronic splice variant advises reexamination of presumably dominant SPG7 CasesEdgard Verdura, Agatha Schlüter, Gorka Fernández-Eulate, et al.
Annals of Clinical and Translational Neurology|November 27, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophyAgustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura, et al.
Plos One|March 29, 2013
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypesJonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, et al.
Brain : a Journal of Neurology|June 12, 2015
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel diseaseEdgard Verdura, Dominique Hervé, Eva Scharrer, et al.
Pageof 3