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Juliette Nectoux

Showing results (21-30 of 67) with videos related to

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Translational Psychiatry|May 12, 2026
Fragmentomics features of cell free DNA in eating disordersAlisa Burova, Camille Verebi, Nicolas Lebrun, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 21, 2009
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 geneNadia Bahi-Buisson, Benoit Girard, Agnes Gautier, et al.
Journal of Neuromuscular Diseases|September 15, 2025
A novel <i>XPNPEP3</i> gene variant manifesting as rhabdomyolysis and exercise intoleranceKatia Staedler, Juliette Nectoux, Corinne Metay, et al.
Neuromuscular Disorders : NMD|March 30, 2023
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3Camille Verebi, Roseline Caumes, Sandra Chantot-Bastaraud, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
Neuromuscular Disorders : NMD|August 14, 2017
DMD and West syndromeRuxandra Cardas, Catrinel Iliescu, Nina Butoianu, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|April 29, 2022
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experienceMathilde Pacault, Camille Verebi, Maureen Lopez, et al.
Gynecologie, Obstetrique, Fertilite & Senologie|July 30, 2023
[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]Camille Verebi, Victor Gravrand, Mathilde Pacault, et al.
Annales De Biologie Clinique|May 31, 2016
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotypeLucie Orhant, Sophie Rondeau, Aurélie Vasson, et al.
Plos One|April 24, 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementationMathilde Pacault, Camille Verebi, Magali Champion, et al.
Pageof 7

Showing results (21-30 of 67) with videos related to

Sort By:
Pageof 7
Translational Psychiatry|May 12, 2026
Fragmentomics features of cell free DNA in eating disordersAlisa Burova, Camille Verebi, Nicolas Lebrun, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|May 21, 2009
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 geneNadia Bahi-Buisson, Benoit Girard, Agnes Gautier, et al.
Journal of Neuromuscular Diseases|September 15, 2025
A novel <i>XPNPEP3</i> gene variant manifesting as rhabdomyolysis and exercise intoleranceKatia Staedler, Juliette Nectoux, Corinne Metay, et al.
Neuromuscular Disorders : NMD|March 30, 2023
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3Camille Verebi, Roseline Caumes, Sandra Chantot-Bastaraud, et al.
Human Mutation|February 1, 2011
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localizationTangui Le Guen, Yann Fichou, Juliette Nectoux, et al.
Neuromuscular Disorders : NMD|August 14, 2017
DMD and West syndromeRuxandra Cardas, Catrinel Iliescu, Nina Butoianu, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|April 29, 2022
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experienceMathilde Pacault, Camille Verebi, Maureen Lopez, et al.
Gynecologie, Obstetrique, Fertilite & Senologie|July 30, 2023
[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook]Camille Verebi, Victor Gravrand, Mathilde Pacault, et al.
Annales De Biologie Clinique|May 31, 2016
Droplet digital PCR, a new approach to analyze fetal DNA from maternal blood: application to the determination of fetal RHD genotypeLucie Orhant, Sophie Rondeau, Aurélie Vasson, et al.
Plos One|April 24, 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementationMathilde Pacault, Camille Verebi, Magali Champion, et al.
Pageof 7