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Benjamin Ganne

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

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Prenatal Diagnosis|March 22, 2026
Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature ReviewRomain Martineau, Constance Wells, Florent Fuchs, et al.
Molecular Genetics and Metabolism|January 29, 2023
Plasma G<sub>M2</sub> ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-GangliosidosisAmélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
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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.
Prenatal Diagnosis|March 22, 2026
Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature ReviewRomain Martineau, Constance Wells, Florent Fuchs, et al.
Molecular Genetics and Metabolism|January 29, 2023
Plasma G<sub>M2</sub> ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-GangliosidosisAmélie Blondel, Ichraf Kraoua, Chloé Marcelino, et al.
Nucleic Acids Research|June 19, 2023
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotypeCamille Laberthonnière, Mégane Delourme, Raphaël Chevalier, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Medrxiv : the Preprint Server for Health Sciences|September 15, 2025
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|March 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiesElsa Leitão, Amandine Santini, Benjamin Cogne, et al.
Nature Genetics|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionCaroline Nava, Benjamin Cogne, Amandine Santini, et al.
Pageof 2