Výsledky vyhledávání - Núria Rivera‐Bruguès
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1
Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion Autor Ivon Cuscó, Roser Corominas, Mónica Bayés, Raquel Flores, Núria Rivera‐Bruguès, Victoria Campuzano, Luis A. Pérez‐Jurado
Vydáno 2008Artigo -
2
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits Autor Denise Horn, Johannes Kapeller, Núria Rivera‐Bruguès, Ute Moog, Bettina Lorenz‐Depiereux, Sebastian Eck, Maja Hempel, Janine Wagenstaller, Alex J.T. Gawthrope, Anthony P. Monaco, Michael Bonin, Olaf Rieß, Eva Wohlleber, Thomas Illig, Connie R. Bezzina, André Franke, Stephanie Spranger, Pablo Villavicencio‐Lorini, Wenke Seifert, Jochen Rosenfeld, Eva Klopocki, Gudrun Rappold, Tim M. Strom
Vydáno 2010Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Allele
Autism
Breakpoint
Chromosomal inversion
Chromosome
Chromosome 7 (human)
Cognition
Copy-number variation
Developmental disorder
Developmental psychology
Environmental health
FOXP2
Gene duplication
Gene family
Genetic recombination
Genome
Haploinsufficiency
Human genome
Intellectual disability
Karyotype
Language disorder
Locus (genetics)
Medicine
Neuroscience
Non-allelic homologous recombination
Phenotype
Population