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Droplet Digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Lucie Orhant
,
Olivia Anselem
,
Mélanie Fradin
,
Pierre Hadrien Becker
,
Caroline Beugnet
et al.
Journal articles
hal-01272602v1
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Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase
France Tuffery-Giraud
,
Christophe Béroud
,
France Leturcq
,
Rabah Ben Yaou
,
Dalil Hamroun
et al.
Journal articles
hal-01681838v1
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Dystrophin's central domain forms a complex filament that becomes disorganized by in-frame deletions
Olivier Delalande
,
Anne-Elisabeth Molza
,
Raphael dos Santos Morais
,
Angélique Chéron
,
Emeline Pollet
et al.
Journal articles
hal-01795395v2
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Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy
Abdallah Fayssoil
,
Lee S Nguyen
,
Tanya Stojkovic
,
Helene Prigent
,
Robert Carlier
et al.
Journal articles
hal-03521139v1
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Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Aurélie Nicolas
,
Céline Lucchetti-Miganeh
,
Rabah Ben Yaou
,
Jean-Claude Kaplan
,
Jamel Chelly
et al.
Journal articles
inserm-00736304v1
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Becker muscular dystrophy severity is linked to the structure of dystrophin.
Aurélie Nicolas
,
Céline Raguénès-Nicol
,
Rabah Ben Yaou
,
Sarah Ameziane-Le Hir
,
Angélique Chéron
et al.
Journal articles
hal-01117005v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi
,
Rabah Ben Yaou
,
Estelle Gandjbakhch
,
Frédéric Anselme
,
Thomas Gossios
et al.
Journal articles
hal-02237297v1
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Clinical phenotypes as predictors of DMD exon 51 skipping therapy: a systematic review
Megan A. Waldrop
,
Rabah Ben Yaou
,
Karin K. Lucas
,
Ann Martin
,
Erin O’rourke
et al.
2018 New Directions in Biology and Disease of Skeletal Muscle Conference, Jun 2018, New Orleans, Louisiane, United States
Conference poster
hal-04015230v1
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