Search Results - Bütschi, Florence Niel

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  1. 1
    Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type

    Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type by Campos‐Xavier, Belinda, Rogers, R. Curtis, Niel‐Bütschi, Florence, Ferreira, Catarina, Unger, Sheila, Spranger, Jürgen, Superti‐Furga, Andrea

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  2. 2
    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

    Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability by Reggiani, Claudio, Coppens, Sandra, Sekhara, Tayeb, Dimov, Ivan, Pichon, Bruno, Lufin, Nicolas, Addor, Marie-Claude, Belligni, Elga Fabia, Digilio, Maria Cristina, Faletra, Flavio, Ferrero, Giovanni Battista, Gerard, Marion, Isidor, Bertrand, Joss, Shelagh, Niel-Bütschi, Florence, Perrone, Maria Dolores, Petit, Florence, Renieri, Alessandra, Romana, Serge, Topa, Alexandra, Vermeesch, Joris Robert, Lenaerts, Tom, Casimir, Georges, Abramowicz, Marc, Bontempi, Gianluca, Vilain, Catheline, Deconinck, Nicolas, Smits, Guillaume

    Published in Genome medicine
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  3. 3
    Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy

    Non-invasive prenatal testing leading to a maternal diagnosis of Charcot–Marie–Tooth neuropathy by Kumps, Camille, Niel Bütschi, Florence, Rapin, Blandine, Baud, David, Pescia, Graziano, Robyr, Daniel, Superti-Furga, Andrea, Unger, Sheila

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  4. 4
    Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved

    Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved by Lam, Jenny, Stoppa-Vaucher, Sophie, Antoniou, Maria Cristina, Bouthors, Thérèse, Ruiz, Inge, Sekarski, Nicole, Rutz, Tobias, Fries, Sophie, Binz, Pierre Alain, Bütschi, Florence Niel, Vulliemoz, Nicolas, Gawlik, Aneta, Pitteloud, Nelly, Hauschild, Michael, Busiah, Kanetee

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  5. 5
    CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures

    CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures by Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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  6. 6
    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

    Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator by Allou, Lila, Balzano, Sara, Magg, Andreas, Quinodoz, Mathieu, Royer-Bertrand, Beryl, Schöpflin, Robert, Chan, Wing-Lee, Speck-Martins, Carlos E., Carvalho, Daniel Rocha, Farage, Luciano, Lourenço, Charles Marques, Albuquerque, Regina, Rajagopal, Srilakshmi, Nampoothiri, Sheela, Campos-Xavier, Belinda, Chiesa, Carole, Niel-Bütschi, Florence, Wittler, Lars, Timmermann, Bernd, Spielmann, Malte, Robson, Michael I., Ringel, Alessa, Heinrich, Verena, Cova, Giulia, Andrey, Guillaume, Prada-Medina, Cesar A., Pescini-Gobert, Rosanna, Unger, Sheila, Bonafé, Luisa, Grote, Phillip, Rivolta, Carlo, Mundlos, Stefan, Superti-Furga, Andrea

    Published in Nature (London)
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  7. 7
    The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs

    The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs by Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Loviglio, Maria Nicla, Jønch, Aia Elise, Popadin, Konstantin, Giannuzzi, Giuliana, Maillard, Anne M., Fagerberg, Christina, Andersen, Charlotte Brasch, Doco-Fenzy, Martine, Delrue, Marie-Ange, Faivre, Laurence, Arveiler, Benoit, Geneviève, David, Schneider, Anouck, Gerard, Marion, Andrieux, Joris, El Chehadeh, Salima, Schaefer, Elise, Depienne, Christel, Van Haelst, Mieke, Brilstra, Eva H., Van Binsbergen, Ellen, van Harssel, Jeske, van der Veken, Lars T., Gusella, James F., Shen, Yiping, Mitchell, Elyse, Kini, Usha, Hawkes, Lara, Campbell, Carolyn, Butschi, Florence Niel, Addor, Marie-Claude, Beckmann, Jacques S., Jacquemont, Sébastien, Reymond, Alexandre, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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  8. 8
    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

    CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations by Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea

    Published in Genes
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  9. 9
    Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

    Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations by Niel-Butschi, Florence, Kantelip, Bernadette, Iwaszkiewicz, Justyna, Zoete, Vincent, Boimard, Mathieu, Delpech, Marc, Bourges, Jean-Louis, Renard, Gilles, D'Hermies, François, Pisella, Pierre-Jean, Hamel, Christian, Delbosc, Bernard, Valleix, Sophie

    Published in Molecular vision
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