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A faster strategy for prenatal diagnosis of fragile X syndrome.
Schmitt S, Giraud M, Hary J, Rival JM, Bezieau S, Boisseau P. Schmitt S, et al. Among authors: giraud m. Prenat Diagn. 2010 Dec;30(12-13):1217-9. doi: 10.1002/pd.2617. Prenat Diagn. 2010. PMID: 20842624 No abstract available.
A new mutation of ANO6 in two familial cases of Scott syndrome.
Boisseau P, Bene MC, Besnard T, Pachchek S, Giraud M, Talarmain P, Robillard N, Gourlaouen MA, Bezieau S, Fouassier M. Boisseau P, et al. Among authors: giraud m. Br J Haematol. 2018 Mar;180(5):750-752. doi: 10.1111/bjh.14439. Epub 2016 Nov 23. Br J Haematol. 2018. PMID: 27879994 Free article. No abstract available.
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.
Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, Zawadzki C, Trossaert M, Itzhar-Baïkian N, Dreyfus M, d'Oiron R, Borel-Derlon A, Susen S, Bezieau S, Denis CV, Goudemand J; French Reference Center for von Willebrand disease. Veyradier A, et al. Among authors: giraud m. Medicine (Baltimore). 2016 Mar;95(11):e3038. doi: 10.1097/MD.0000000000003038. Medicine (Baltimore). 2016. PMID: 26986123 Free PMC article.
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: giraud m. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
368 results