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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: doummar d. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.
[Spasmus nutans: apropos of 16 cases].
Doummar D, Roussat B, Beauvais P, Billette de Villemeur T, Richardet JM. Doummar D, et al. Arch Pediatr. 1998 Mar;5(3):264-8. doi: 10.1016/s0929-693x(97)89366-9. Arch Pediatr. 1998. PMID: 10327992 French.
[Study of visual field and vigabatrin treatment in children].
Pelosse B, Momtchilova M, Roubergue A, Doummar D, Billette de Villemeur T, Laroche L. Pelosse B, et al. Among authors: doummar d. J Fr Ophtalmol. 2001 Dec;24(10):1075-80. J Fr Ophtalmol. 2001. PMID: 11913238 French.
[Movement disorders in children].
Roubertie A, Thobois S, de Saint Martin A, Billette de Villemeur T, Doummar D. Roubertie A, et al. Among authors: doummar d. Arch Pediatr. 2006 Jun;13(6):798-800. doi: 10.1016/j.arcped.2006.03.074. Epub 2006 May 11. Arch Pediatr. 2006. PMID: 16690306 French. No abstract available.
Early neurological phenotype in 4 children with biallelic PRODH mutations.
Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D. Afenjar A, et al. Among authors: doummar d. Brain Dev. 2007 Oct;29(9):547-52. doi: 10.1016/j.braindev.2007.01.008. Epub 2007 Apr 6. Brain Dev. 2007. PMID: 17412540
Novel B3GALTL mutation in Peters-plus Syndrome.
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N. Dassie-Ajdid J, et al. Among authors: doummar d. Clin Genet. 2009 Nov;76(5):490-2. doi: 10.1111/j.1399-0004.2009.01253.x. Epub 2009 Sep 30. Clin Genet. 2009. PMID: 19796186 No abstract available.
124 results