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Human Mutation
|
July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Skeletal Muscle
|
November 17, 2015
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
Emmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, et al.
Human Molecular Genetics
|
November 26, 2015
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
Chloé Delépine, Hamid Meziane, Juliette Nectoux, et al.
The Journal of Molecular Diagnostics : JMD
|
November 26, 2023
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions
Laurence Pacot, Manuela Ye, Juliette Nectoux, et al.
Annales D'Endocrinologie
|
March 21, 2026
Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: nine-year activity and performance analysis from the French public network
Adrien Labarthe, Solène Doppler, Marie-Pierre Audrézet, et al.
Plos One
|
May 12, 2016
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, Dominique Le Tessier, et al.
Clinical Chemistry and Laboratory Medicine
|
April 4, 2018
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, et al.
Acta Neuropathologica Communications
|
October 20, 2023
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Nastasia Cardone, Valentina Taglietti, Serena Baratto, et al.
Brain : a Journal of Neurology
|
September 16, 2008
Key clinical features to identify girls with CDKL5 mutations
Nadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
|
April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
Rose White, Gladys Ho, Swetlana Schmidt, et al.
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of 7
Search research articles
Search
Showing results (41-50 of 67) with videos related to
Sort By:
Page
of 7
Human Mutation
|
July 6, 2026
Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16
Edoardo Malfatti, Alexandru Caramizaru, Federica Trentin, et al.
Skeletal Muscle
|
November 17, 2015
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells
Emmanuelle Massouridès, Jérôme Polentes, Philippe-Emmanuel Mangeot, et al.
Human Molecular Genetics
|
November 26, 2015
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
Chloé Delépine, Hamid Meziane, Juliette Nectoux, et al.
The Journal of Molecular Diagnostics : JMD
|
November 26, 2023
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions
Laurence Pacot, Manuela Ye, Juliette Nectoux, et al.
Annales D'Endocrinologie
|
March 21, 2026
Nationwide implementation of exclusion non-invasive prenatal diagnosis for single-gene disorders: nine-year activity and performance analysis from the French public network
Adrien Labarthe, Solène Doppler, Marie-Pierre Audrézet, et al.
Plos One
|
May 12, 2016
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study
Laïla Allach El Khattabi, Christelle Rouillac-Le Sciellour, Dominique Le Tessier, et al.
Clinical Chemistry and Laboratory Medicine
|
April 4, 2018
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, et al.
Acta Neuropathologica Communications
|
October 20, 2023
Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells
Nastasia Cardone, Valentina Taglietti, Serena Baratto, et al.
Brain : a Journal of Neurology
|
September 16, 2008
Key clinical features to identify girls with CDKL5 mutations
Nadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
|
April 20, 2010
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
Rose White, Gladys Ho, Swetlana Schmidt, et al.
Page
of 7