Your search returned 7 results.

Results
	1.	An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica. [electronic resource] by Schmitt, Sébastien Küry, Sébastien Giraud, Mathilde Dréno, Brigitte Kharfi, Monia Bézieau, Stéphane Producer: 20090813 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12. [electronic resource] by Boisseau, Pierre Giraud, Mathilde Ternisien, Catherine Veyradier, Agnès Fressinaud, Edith Lefrancois, Armelle Bezieau, Stéphane Fouassier, Marc Producer: 20120210 In: Haematologica vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	A new mutation of ANO6 in two familial cases of Scott syndrome. [electronic resource] by Boisseau, Pierre Bene, Marie C Besnard, Thomas Pachchek, Sinthuja Giraud, Mathilde Talarmain, Patricia Robillard, Nelly Gourlaouen, Marie A Bezieau, Stéphane Fouassier, Marc Producer: 20190102 In: British journal of haematology vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia. [electronic resource] by Babuty, Antoine Boisseau, Pierre Eveillard, Marion Ternisien, Catherine Debord, Camille Sigaud, Marianne Giraud, Mathilde Gillet, Benjamin Trossaert, Marc Béné, Marie-Christine Fouassier, Marc Producer: 20200616 In: British journal of haematology vol. 186 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome. [electronic resource] by Isidor, Bertrand Capito, Carmen Paris, Françoise Baron, Sabine Corradini, Nadège Cabaret, Blandine Leclair, Marc-David Giraud, Mathilde Martin-Coignard, Dominique David, Albert Sultan, Charles Le Caignec, Cédric Producer: 20090923 In: The Journal of clinical endocrinology and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. [electronic resource] by 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, Jenny Producer: 20160801 In: Medicine vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing. [electronic resource] by 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 Burguet, Antoine Kyndt, Florence Faivre, Laurence Producer: 20171024 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)