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Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Among authors: billette de villemeur t. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552
[Fetal neurology: conditions of diagnostic uncertainty].
Moutard ML, Gélot A, Rodriguez D, Guët A, Mignot C, Ponsot G, Billette de Villemeur T. Moutard ML, et al. Among authors: billette de villemeur t. Arch Pediatr. 2006 Jun;13(6):825-7. doi: 10.1016/j.arcped.2006.03.128. Epub 2006 May 12. Arch Pediatr. 2006. PMID: 16698255 French. No abstract available.
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: billette de villemeur t. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
143 results