Search Results - Quenum‐Miraillet, Genevieve

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  1. 1
    Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up

    Prenatal diagnosis of pontocerebellar hypoplasia with postnatal follow‐up by Jaillard, Alienor, Valence, Stéphanie, Vande Perre, Saskia, Dhombres, Ferdinand, Héron, Delphine, Billette de Villemeur, Thierry, Keren, Boris, Afenjar, Alexandra, Qebibo, Leila, Harion, Madeleine, Quenum‐Miraillet, Geneviève, Rodriguez, Diana, Jouannic, Jean‐Marie, Burglen, Lydie, Garel, Catherine

    Published in Prenatal diagnosis
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  2. 2
    Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype

    Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype by Nguyen, Toan, Heide, Solveig, Guilbaud, Lucie, Valence, Stéphanie, Perre, Saskia Vande, Blondiaux, Eléonore, Keren, Boris, Quenum‐Miraillet, Geneviève, Jouannic, Jean‐Marie, Mandelbrot, Laurent, Picone, Olivier, Guet, Agnès, Tsatsaris, Vassilis, Milh, Mathieu, Girard, Nadine, Vincent, Marie, Nizon, Mathilde, Poirsier, Céline, Vivanti, Alexandre, Benachi, Alexandra, Portes, Vincent des, Guibaud, Laurent, Patat, Olivier, Spentchian, Myrtille, Frugère, Lisa, Héron, Delphine, Garel, Catherine

    Published in Prenatal diagnosis
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  3. 3
    The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event

    The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event by Awad, Fawaz, Assrawi, Eman, Jumeau, Claire, Odent, Sylvie, Despert, Veronique, Cam, Gérard, Perdriger, Aleth, Louvrier, Camille, Cobret, Laetitia, Copin, Bruno, Chantot‐Bastaraud, Sandra, Duquesnoy, Philippe, Piterboth, William, Le Jeunne, Claire, Quenum‐Miraillet, Genevieve, Siffroi, Jean Pierre, Georgin‐Lavialle, Sophie, Grateau, Gilles, Legendre, Marie, Giurgea, Irina, Karabina, Sonia‐Athina, Amselem, Serge

    Published in ACR open rheumatology
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  4. 4
    First reports of fetal SMARCC1 related hydrocephalus

    First reports of fetal SMARCC1 related hydrocephalus by Rive Le Gouard, Nicolas, Nicolle, Romain, Lefebvre, Mathilde, Gelot, Antoinette, Heide, Solveig, Gerasimenko, Anna, Grigorescu, Romulus, Derive, Nicolas, Jouannic, Jean-Marie, Garel, Catherine, Valence, Stéphanie, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Keren, Boris, Heron, Delphine, Attie-Bitach, Tania

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  5. 5
    Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

    Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia by Quenum-Miraillet, Geneviève, Malan, Valérie, Martinovic, Jelena, Encha-Razavi, Férechté, Aral, Bernard, Texier, Isabelle, Bonnefont, Jean-Paul, Vekemans, M., Morichon-Delvallez, Nicole

    Published in Prenatal diagnosis
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