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Juliette Nectoux

Showing results (51-60 of 67) with videos related to

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Birth Defects Research|December 20, 2022
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, et al.
European Journal of Medical Genetics|September 18, 2020
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomaliesLouis M Viollet, Kathryn J Swoboda, Rong Mao, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Human Genetics|August 8, 2022
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1Laurence Pacot, Valerie Pelletier, Albain Chansavang, et al.
The Journal of Clinical Endocrinology and Metabolism|December 13, 2021
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing VariantThomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, et al.
Journal of Neuromuscular Diseases|July 9, 2026
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencingEmmanuelle Pion, Mireille Cossée, Valérie Biancalana, et al.
Brain : a Journal of Neurology|February 5, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexityCharlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Pageof 7

Showing results (51-60 of 67) with videos related to

Sort By:
Pageof 7
Birth Defects Research|December 20, 2022
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1Yosra Lajmi, Laurence Loeuillet, Giulia Petrilli, et al.
European Journal of Medical Genetics|September 18, 2020
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomaliesLouis M Viollet, Kathryn J Swoboda, Rong Mao, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Journal of Neuromuscular Diseases|November 18, 2016
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair MechanismsIsabelle Marey, Rabah Ben Yaou, Nathalie Deburgrave, et al.
The Journal of Molecular Diagnostics : JMD|May 17, 2022
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated DomainsAurélien Perrin, Charles Van Goethem, Corinne Thèze, et al.
Human Genetics|August 8, 2022
Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1Laurence Pacot, Valerie Pelletier, Albain Chansavang, et al.
The Journal of Clinical Endocrinology and Metabolism|December 13, 2021
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing VariantThomas Huby, Edouard Le Guillou, Cyril Burin des Roziers, et al.
Journal of Neuromuscular Diseases|July 9, 2026
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencingEmmanuelle Pion, Mireille Cossée, Valérie Biancalana, et al.
Brain : a Journal of Neurology|February 5, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexityCharlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Pageof 7