Nathalie Deburgrave
27 Rue Du Faubourg Saint Jacques
Paris, 75014, France
Paris, 75014, France
Last Updated: 09/26/2026
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Found 8 publications
How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.
Journal: Neuromuscular disorders : NMD
Published: January 17, 2023
Non-invasive prenatal diagnosis of single gene disorders by paternal mutation exclusion: 3 years of clinical experience.
Journal: BJOG : an international journal of obstetrics and gynaecology
Published: April 22, 2021
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation.
Journal: Skeletal muscle
Published: February 27, 2020
Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms.
Journal: Journal of neuromuscular diseases
Published: November 18, 2016
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.
Journal: Prenatal diagnosis
Published: August 07, 2015
Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.
Journal: Skeletal muscle
Published: July 23, 2015
When a mid-intronic variation of DMD gene creates an ESE site.
Journal: Neuromuscular disorders : NMD
Published: June 05, 2014
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.
Journal: European journal of human genetics : EJHG
Published: August 06, 2012
Showing 1-8 of 8
Last Updated: 09/26/2026