Publications by authors named "Veronique Darmency"

Claim this Profile
E
Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.
Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Véronique Darmency

Mol Autism· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Véronique Darmency

Clin Genet· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Benoit Mazel, Delphine Mallet, Florence Roucher-Boulez, Candace Ben Signor, Marie Bournez, Véronique Darmency

Am J Med Genet A· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Véronique Darmency

Mol Genet Metab Rep· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18.
Nawale Hadouiri, Quentin Thomas, Véronique Darmency, Véronique Dulieu, Marie-Gabrielle Mourot De Rougemont

Clin Genet· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Véronique Darmency

Genet Med· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Véronique Darmency

Genet Med· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.
Nawale Hadouiri, Veronique Darmency, Laurent Guibaud, Alexis Arzimanoglou, Arthur Sorlin

Eur J Med Genet· November 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Veronique Darmency

Genet Med· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Correction to: The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Veronique Darmency

Genet Med· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The landscape of epilepsy-related GATOR1 variants.
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, Marjan van Kempen, Eva H Brilstra, Veronique Darmency

Genet Med· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.
Mirna Assoum, Matthew A Lines, Orly Elpeleg, Véronique Darmency, Sharon Whiting

Am J Med Genet A· November 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
[
[Epidemiology of strokes in pediatry].
Yannick Béjot, Benoit Delpont, Christelle Blanc, Véronique Darmency, Frédéric Huet

Soins Pediatr Pueric· July 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease).
Véronique Darmency, Christel Thauvin-Robinet, Thierry Rousseau, Nathalie Mejean, Ségolène Charra

Prenat Diagn· September 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis