Hasil Pencarian - Frédéric Tores

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  1. 1
    VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

    VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease oleh Hassan Saei, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval

    Diterbitkan 2023-07-01
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  2. 2
    Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity

    Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity oleh Raphaël Dos Reis, Etienne Kornobis, Alyssa Pereira, Frederic Tores, Judit Carrasco, Candice Gautier, Céline Jahannault-Talignani, Patrick Nitschké, Christian Muchardt, Andreas Schlosser, Hans Michael Maric, Fabrice Ango, Eric Allemand

    Diterbitkan 2022-06-01
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  3. 3
    P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases

    P168: MUC1 gene coding-VNTR alignment-free genotyping approach augmented ADTKD diagnosis in a cohort of 3735 patients with hereditary kidney diseases oleh Hassan Saei, Jessica Kachmar, Vincent Morinière, Laurence Heidet, Olivier Gribouval, Said Lebbah, Frederic Tores, Manon Mautret-Godefroy, Bertrand Knebelmann, Stéphane Burtey, Vincent Vuiblet, Corinne Antignac, Patrick Nitschké, Guillaume Dorval

    Diterbitkan 2024-01-01
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  4. 4
    TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology

    TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet physiology oleh Athanasia Stoupa, Frédéric Adam, Dulanjalee Kariyawasam, Catherine Strassel, Sanjay Gawade, Gabor Szinnai, Alexandre Kauskot, Dominique Lasne, Carsten Janke, Kathiresan Natarajan, Alain Schmitt, Christine Bole‐Feysot, Patrick Nitschke, Juliane Léger, Fabienne Jabot‐Hanin, Frédéric Tores, Anita Michel, Arnold Munnich, Claude Besmond, Raphaël Scharfmann, François Lanza, Delphine Borgel, Michel Polak, Aurore Carré

    Diterbitkan 2018-12-01
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  5. 5
    Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

    Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect oleh Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

    Diterbitkan 2022-06-01
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  6. 6
    Somatic genetic rescue of a germline ribosome assembly defect

    Somatic genetic rescue of a germline ribosome assembly defect oleh Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy

    Diterbitkan 2021-08-01
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