1. A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. Issue 11 (March 2016) Authors: Veyradier, Agnès; Boisseau, Pierre; Fressinaud, Edith; Caron, Claudine; Ternisien, Catherine; Giraud, Mathilde; Zawadzki, Christophe; Trossaert, Marc; Itzhar-Baïkian, Nathalie; Dreyfus, Marie; d'Oiron, Roseline; Borel-Derlon, Annie; Susen, Sophie; Bezieau, Stéphane; Denis, Cécile V.; Goudemand, J... Editors: Marchi., Rita Journal: Medicine Issue: Volume 95:Issue 11(2016) Page Start: e3038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia. (4th January 2019) Authors: Babuty, Antoine; Boisseau, Pierre; Eveillard, Marion; Ternisien, Catherine; Debord, Camille; Sigaud, Marianne; Giraud, Mathilde; Gillet, Benjamin; Trossaert, Marc; Béné, Marie‐Christine; Fouassier, Marc Journal: British journal of haematology Issue: Volume 186:Number 1(2019) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A new mutation of ANO6 in two familial cases of Scott syndrome. (23rd November 2016) Authors: Boisseau, Pierre; Bene, Marie C.; Besnard, Thomas; Pachchek, Sinthuja; Giraud, Mathilde; Talarmain, Patricia; Robillard, Nelly; Gourlaouen, Marie A.; Bezieau, Stéphane; Fouassier, Marc Journal: British journal of haematology Issue: Volume 180:Number 5(2018) Page Start: 750 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next‐generation sequencing. Issue 2 (21st November 2016) Authors: Baurand, Amandine; Falcon‐Eicher, Sylvie; Laurent, Gabriel; Villain, Elisabeth; Bonnet, Caroline; Thauvin‐Robinet, Christel; Jacquot, Caroline; Eicher, Jean‐Christophe; Gourraud, Jean‐Baptiste; Schmitt, Sébastien; Bézieau, Stéphane; Giraud, Mathilde; Dumont, Solenne; Kuentz, Paul; Probst, Vincent... Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 531 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗