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 TitleAuthors / EditorsDate
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Handicap intellectuel : apport de la génétique pour le diagnostic étiologique Jouan, Chrystel; Kosel, Markus Mathaus; Abramowicz, Marc; Giacobino, Ariane 2018
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Fusion genes with ALK as recurrent partner in ependymoma-like gliomas: a new brain tumor entity? Olsen, Thale Kristin; Panagopoulos, Ioannis; Meling, Torstein R; Micci, Francesca; ... Brandal, Petter 2015
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Towards the identification of a genetic basis for Landau-Kleffner syndrome Conroy, Judith; McGettigan, Paul A; McCreary, Dara; Shah, Naisha; ... King, Mary D 2014
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Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele Radhakrishna, Uppala; Nath, Swapan K; McElreavey, Ken; Ratnamala, Uppala; ... Butler, Merlin G 2012
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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Pretransplant HLA mistyping in diagnostic samples of acute myeloid leukemia patients due to acquired uniparental disomy Dubois, V; Sloan-Béna, F; Cesbron, A; Hepkema, B G; ... Tiercy, Jean-Marie 2012
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Jacquemont, Sébastien 2011
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Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma Valsesia, Armand; Rimoldi, Donata; Martinet, Danielle; Ibberson, Mark; ... Stevenson, Brian J 2011
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A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia Gimelli, Stefania; Makrythanasis, Periklis; Stouder, Christelle; Antonarakis, Stylianos; ... Sloan Bena, Frédérique 2011
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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents Marini, Monica; Bocciardi, Renata; Gimelli, Stefania; Di Duca, Marco; ... Ravazzolo, Roberto 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Comparative genomics of epidemic versus sporadic Staphylococcus aureus strains does not reveal molecular markers for epidemicity Kuhn, Gerrit; Koessler, Thibaud; Melles, D. C.; Francois, Patrice; ... Blanc, Dominique 2010
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Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Lyle, Robert; Bena, Frédérique; Gagos, Sarantis; Gehrig, Corinne; ... Antonarakis, Stylianos 2009
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Sharp, Andrew James; Guipponi, Michel; Fuchs, Katrin; Malafosse, Alain 2009
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Identification by genomic and genetic analysis of two new genes playing a key role in intermediate glycopeptide resistance in Staphylococcus aureus Renzoni, Adriana Maria; Kelley, William; Barras, Christine; Monod, Antoinette; ... Lew, Daniel Pablo 2009
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Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms Lespinasse, James; Gimelli, Stefania; Bena, Frédérique; Antonarakis, Stylianos; ... Giacobino, Ariane 2009
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Characterization of microbial pathogens by DNA microarrays Huyghe, Antoine; Francois, Patrice; Schrenzel, Jacques 2009