Publications by authors named "Mathilde Giraud"

Claim this Profile
A
A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia.
Antoine Babuty, Pierre Boisseau, Marion Eveillard, Catherine Ternisien, Camille Debord, Mathilde Giraud

Br J Haematol· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A new mutation of ANO6 in two familial cases of Scott syndrome.
Pierre Boisseau, Marie C Bene, Thomas Besnard, Sinthuja Pachchek, Mathilde Giraud

Br J Haematol· March 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Amandine Baurand, Sylvie Falcon-Eicher, Gabriel Laurent, Elisabeth Villain, Caroline Bonnet, Mathilde Giraud

Am J Med Genet A· February 2017

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Agnès Veyradier, Pierre Boisseau, Edith Fressinaud, Claudine Caron, Catherine Ternisien, Mathilde Giraud

Medicine (Baltimore)· March 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.
Pierre Boisseau, Mathilde Giraud, Catherine Ternisien, Agnès Veyradier, Edith Fressinaud

Haematologica· October 2011

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.
Bertrand Isidor, Carmen Capito, Françoise Paris, Sabine Baron, Nadège Corradini, Mathilde Giraud

J Clin Endocrinol Metab· September 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.
Sébastien Schmitt, Sébastien Küry, Mathilde Giraud, Brigitte Dréno, Monia Kharfi

Hum Mutat· June 2009

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis