Hasil Pencarian - Paco Derouault

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  1. 1
    The First Large Deletion of <i>ATL3</i> Identified in a Patient Presenting with a Sensory Polyneuropathy

    The First Large Deletion of <i>ATL3</i> Identified in a Patient Presenting with a Sensory Polyneuropathy oleh Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia

    Diterbitkan 2023-05-01
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  2. 2
    New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

    New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient oleh Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia

    Diterbitkan 2019-09-01
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  3. 3
    A mutation can hide another one: Think Structural Variants!

    A mutation can hide another one: Think Structural Variants! oleh Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

    Diterbitkan 2020-01-01
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  4. 4
    One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

    One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form oleh Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia

    Diterbitkan 2020-12-01
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  5. 5
    CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

    CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer. oleh Paco Derouault, Jasmine Chauzeix, David Rizzo, Federica Miressi, Corinne Magdelaine, Sylvie Bourthoumieu, Karine Durand, Hélène Dzugan, Jean Feuillard, Franck Sturtz, Stéphane Mérillou, Anne-Sophie Lia

    Diterbitkan 2020-02-01
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  6. 6
    A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

    A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene oleh Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye

    Diterbitkan 2020-01-01
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  7. 7
    Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

    Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients oleh Maxime Lafontaine, Anne‐Sophie Lia, Sylvie Bourthoumieu, Hélène Beauvais‐Dzugan, Paco Derouault, Marie‐Christine Arné‐Bes, Catherine Sarret, Fanny Laffargue, Armelle Magot, Franck Sturtz, Laurent Magy, Corinne Magdelaine

    Diterbitkan 2021-02-01
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  8. 8
    UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus

    UnAIDed Class Switching in Activated B-Cells Reveals Intrinsic Features of a Self-Cleaving IgH Locus oleh Iman Dalloul, Brice Laffleur, Zeinab Dalloul, Batoul Wehbi, Florence Jouan, Baptiste Brauge, Paco Derouault, Jeanne Moreau, Sven Kracker, Alain Fischer, Anne Durandy, Sandrine Le Noir, Michel Cogné, Michel Cogné

    Diterbitkan 2021-10-01
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  9. 9
    New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

    New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software oleh Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

    Diterbitkan 2021-01-01
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  10. 10
    Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease

    Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease oleh Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye

    Diterbitkan 2020-10-01
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  11. 11
    PB1819: KMT2A::ARHGEF12 RARE FUSION ASSOCIATED WITH A NOVEL GERMLINE DDX41 VARIANT IN ACUTE MYELOID LEUKEMIA

    PB1819: KMT2A::ARHGEF12 RARE FUSION ASSOCIATED WITH A NOVEL GERMLINE DDX41 VARIANT IN ACUTE MYELOID LEUKEMIA oleh Maxime Roubinet, David Rizzo, Jasmine Chauzeix, Pascal Turlure, Marie-Pierre Laforet, Paco Derouault, Jean Feuillard, Catherine Yardin, Marie-Mathilde Auboiroux, Léa Veyrune, Alexandre Perani, Sylvie Bourthoumieu, Benjamin Dauriat, Nathalie Gachard

    Diterbitkan 2023-08-01
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  12. 12
    Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

    Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series oleh Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux, Léa Darnaud, Hélène Beauvais‐Dzugan, Steven Naud, Laurence Richard, Paco Derouault, Karima Ghorab, Laurent Magy, Jean‐Michel Vallat, Pascal Cintas, Eric Bieth, Marie‐Christine Arne‐Bes, Cyril Goizet, Caroline Espil‐Taris, Hubert Journel, Annick Toutain, Jon Andoni Urtizberea, Odile Boespflug‐Tanguy, Fanny Laffargue, Philippe Corcia, Laurent Pasquier, Mélanie Fradin, Sylva Napuri, Jonathan Ciron, Jean‐Marc Boulesteix, Franck Sturtz, Anne‐Sophie Lia

    Diterbitkan 2019-09-01
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