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European Journal of Human Genetics : EJHG|April 21, 2001
Parental origin of de novo MECP2 mutations in Rett syndromeM Girard, P Couvert, A Carrié, et al.Revue Neurologique|January 15, 2010
Tangier disease phenotype diversity in dizygous twin sistersP Pichit, M Quillard, P Couvert, et al.Biotechniques|March 5, 2003
DHPLC-based method for DNA methylation analysis of differential methylated regions from imprinted genesP Couvert, K Poirier, A Carrié, et al.Annales De Genetique|May 20, 2000
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardationP Billuart, J Chelly, A Carrié, et al.Human Mutation|August 29, 2001
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategyT Bienvenu, I Souville, K Poirier, et al.Human Molecular Genetics|May 18, 2000
MECP2 mutations account for most cases of typical forms of Rett syndromeT Bienvenu, A Carrié, N de Roux, et al.Journal of Thrombosis and Haemostasis : JTH|January 11, 2016
ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1T Lhermusier, S Severin, J Van Rothem, et al.American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, et al.Human Molecular Genetics|July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.Pageof 2