Publications
L’une des missions de la FRH est de diffuser les résultats des recherches effectuées dans le domaine du handicap. Voici un recueil de publications en lien avec cette large thématique. N’hésitez pas à nous faire suivre vos publications.
Visualizzazione di 25-36 di 75 risultati
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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
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A measurement of the ratio of the W and Z cross sections with exactly one associated jet in pp collisions at √es=7 TeV with ATLAS
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Social Relevance Boosts Context Processing in Williams Syndrome
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Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase
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Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
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A t(7;12) Balanced Translocation With Breakpoints Overlapping Those of the Williams–Beuren and 12q14 Microdeletion Syndromes
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An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
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Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls
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Recurrent Mutations in the CDKL5 Gene: Genotype-phenotype Relationships
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Déficience intellectuelle et psychopathologie: instruments d’évaluation et application dans l’étude du phénotype comportemental des adultes avec syndrome de Down