Search Results - Niclass, Tanguy

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  1. 1
    FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development

    FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development by Mazel, Benoit, Delanne, Julian, Garde, Aurore, Racine, Caroline, Bruel, Ange‐Line, Duffourd, Yannis, Lopergolo, Diego, Santorelli, Filippo Maria, Marchi, Viviana, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Canitano, Roberto, Valentino, Floriana, Papa, Filomena Tiziana, Fallerini, Chiara, Mari, Francesca, Renieri, Alessandra, Munnich, Arnold, Niclass, Tanguy, Le Guyader, Gwenaël, Thauvin‐Robinet, Christel, Philippe, Christophe, Faivre, Laurence

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  2. 2
    12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A

    12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A by Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Egloff, Matthieu

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  3. 3
    The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

    The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants by Furia, Francesca, Levy, Amanda M., Theunis, Miel, Bamshad, Michael J., Bartos, Meghan N., Bijlsma, Emilia K., Brancati, Francesco, Cejudo, Lucile, Chong, Jessica X., De Luca, Chiara, Dean, Sarah Joy, Egense, Alena, Goel, Himanshu, Guenzel, Adam J., Hüffmeier, Ulrike, Legius, Eric, Mancini, Grazia M. S., Marcos‐Alcalde, Iñigo, Niclass, Tanguy, Planes, Marc, Redon, Sylvia, Ros‐Pardo, David, Rouault, Karen, Schot, Rachel, Schuhmann, Sarah, Shen, Joseph J., Tao, Alice M., Thiffault, Isabelle, Van Esch, Hilde, Wentzensen, Ingrid M., Barakat, Tahsin Stefan, Møller, Rikke S., Gomez‐Puertas, Paulino, Chung, Wendy K., Gardella, Elena, Tümer, Zeynep

    Published in Clinical genetics
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  4. 4
    Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage

    Retards staturaux liés au gène SHOX : étude rétrospective multicentrique sur l’implication des CNVs et l’apport du séquençage by Egloff, Matthieu, Patri, Sylvie, Compain, Florence, Bouazzaoui, Abdelhakim, Boucher Brischoux, Elise, Costa, Jean-Marc, Denizet-Avice, Anne-Laude, Engel, Camille, Fradin, Mélanie, Jaillard, Sylvie, Kuentz, Paul, Le Guillou-Horn, Xavier, Letard, Pascaline, Niclass, Tanguy, Piard, Juliette, Redon, Sylvia, Roullaud, Sylvie, Roze-Guillaumey, Virginie, Le Guyader, Gwenael, Dufernez, Fabienne, Porteret, Camille

    Published in Morphologie
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  5. 5
    Syndrome microdélétionnel 12q21 : une région critique de 1,6 Mb, comprenant les gènes SYT1 et PPP1R12A

    Syndrome microdélétionnel 12q21 : une région critique de 1,6 Mb, comprenant les gènes SYT1 et PPP1R12A by Egloff, Matthieu, Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert-Dussardier, Brigitte, Bilan, Frédéric

    Published in Morphologie
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  6. 6
    12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A

    12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A by Niclass, Tanguy, Le Guyader, Gwenael, Beneteau, Claire, Joubert, Madeleine, Pizzuti, Antonio, Giuffrida, Maria Grazia, Bernardini, Laura, Gilbert-Dussardier, Brigitte, Bilan, Frederic, Egloff, Matthieu

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