Bilaketaren emaitzak - Nadia Bahi‐Buisson

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  1. 1
    <i>CDKL5</i>-Related Disorders: From Clinical Description to Molecular Genetics

    <i>CDKL5</i>-Related Disorders: From Clinical Description to Molecular Genetics nork Nadia Bahi‐Buisson, Thierry Bienvenu

    Argitaratua 2011
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  2. 2
    <i>FOXG1</i>-Related Disorders: From Clinical Description to Molecular Genetics

    <i>FOXG1</i>-Related Disorders: From Clinical Description to Molecular Genetics nork Cédrick Florian, Nadia Bahi‐Buisson, Thierry Bienvenu

    Argitaratua 2011
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  3. 3
    Genetics and mechanisms leading to human cortical malformations

    Genetics and mechanisms leading to human cortical malformations nork Delfina M. Romero, Nadia Bahi‐Buisson, Fiona Francis

    Argitaratua 2017
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  4. 4
    The ketogenic diet improves recently worsened focal epilepsy

    The ketogenic diet improves recently worsened focal epilepsy nork Nathalie Villeneuve, Florence Pinton, Nadia Bahi‐Buisson, Olivier Dulac, Catherine Chiron, Rima Nabbout

    Argitaratua 2009
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  5. 5
    Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome

    Linking <i>MECP2</i> and pain sensitivity: The example of Rett syndrome nork Jenny Downs, Sandrine M. Géranton, Ami Bebbington, Peter Jacoby, Nadia Bahi‐Buisson, David Ravine, Helen Leonard

    Argitaratua 2010
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  6. 6
    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome nork Nadia Bahi‐Buisson, Emmanuel Roze, Carlo Dionisi‐Vici, Fabienne Escande, Vassili Valayannopoulos, François Feillet, Claudine Heinrichs

    Argitaratua 2008
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  7. 7
    Tubulin mutations in human neurodevelopmental disorders

    Tubulin mutations in human neurodevelopmental disorders nork Camille Maillard, Charles Joris Roux, Fabienne Charbit‐Henrion, Julie Steffann, Annie Laquerrière, Floriane Quazza, Nadia Bahi Buisson

    Argitaratua 2022
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  8. 8
    Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

    Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated nork Kai Zhang, Helen E. Foster, Arnaud Rondelet, Samuel E. Lacey, Nadia Bahi‐Buisson, Alexander W. Bird, Andrew P. Carter

    Argitaratua 2017
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  9. 9
    Epilepsy in Menkes Disease: Analysis of Clinical Stages

    Epilepsy in Menkes Disease: Analysis of Clinical Stages nork Nadia Bahi‐Buisson, Anna Kaminśka, Rima Nabbout, Christine Barnérias, Isabelle Desguerre, Pascale de Lonlay, M. Mayer, Perrine Plouin, Olivier Dulac, Catherine Chiron

    Argitaratua 2006
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  10. 10
    Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack

    Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack nork Nicolas Garcelon, Antoine Neuraz, Vincent Benoît, Rémi Salomon, Sven Kracker, Felipe Suárez, Nadia Bahi‐Buisson, S. Hadj‐Rabia, Alain Fischer, Arnold Münnich, Anita Burgun

    Argitaratua 2017
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  11. 11
    Epileptic phenotypes in children with respiratory chain disorders

    Epileptic phenotypes in children with respiratory chain disorders nork Sandra Sabbagh, Anne-Sophie Lèbre, Nadia Bahi‐Buisson, Pascale Delonlay, Christine Soufflet, Nathalie Boddaert, Marlène Rio, Agnès Rötig, Olivier Dulac, Arnold Münnich, Isabelle Desguerre

    Argitaratua 2010
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  12. 12
    Updating the profile of C-terminal MECP2 deletions in Rett syndrome

    Updating the profile of C-terminal MECP2 deletions in Rett syndrome nork Ami Bebbington, Alan K. Percy, John Christodoulou, David Ravine, Gladys Ho, Peter Jacoby, Alison Anderson, M. Pineda, Bruria Ben Zeev, Nadia Bahi‐Buisson, Eric Smeets, Helen Leonard

    Argitaratua 2009
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  13. 13
    Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

    Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly nork Jacopo Amerigo Carpentieri, Amandine Di Cicco, Maruša Lampič, David Andreau, Laurence Del Maestro, Fatima El Marjou, Laure Coquand, Nadia Bahi‐Buisson, Jean‐Baptiste Brault, Alexandre D. Baffet

    Argitaratua 2022
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  14. 14
    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships

    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships nork Nadia Bahi‐Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Hélène Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye‐Duriez, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold, Thierry Bienvenu

    Argitaratua 2012
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  15. 15
    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria nork Karine Poirier, Yoann Saillour, Franck J. Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Chérif Beldjord, Jamel Chelly, Nadia Bahi‐Buisson

    Argitaratua 2012
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  16. 16
    The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

    The wide spectrum of tubulinopathies: what are the key features for the diagnosis? nork Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly

    Argitaratua 2014
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  17. 17
    Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

    Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial nork Elia M. Pestana-Knight, Sam Amin, Nadia Bahi‐Buisson, Tim A. Benke, J. Helen Cross, Scott Demarest, Heather E. Olson, Nicola Specchio, Thomas R. Fleming, Alex A. Aimetti, Maciej Gąsior, Orrin Devinsky

    Argitaratua 2022
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  18. 18
    Rett syndrome: Revised diagnostic criteria and nomenclature

    Rett syndrome: Revised diagnostic criteria and nomenclature nork Jeffrey L. Neul, Walter E. Kaufmann, Daniel G. Glaze, John Christodoulou, Angus Clarke, Nadia Bahi‐Buisson, Helen Leonard, Mark E.S. Bailey, N. Carolyn Schanen, Michele Zappella, Alessandra Renieri, Peter Huppke, Alan K. Percy

    Argitaratua 2010
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  19. 19
    Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up

    Long‐term treatment with ganaxolone for seizures associated with cyclin‐dependent kinase‐like 5 deficiency disorder: Two‐year open‐label extension follow‐up nork Heather E. Olson, Sam Amin, Nadia Bahi‐Buisson, Orrin Devinsky, Eric D. Marsh, Elia M. Pestana-Knight, Rajsekar R. Rajaraman, Alex A. Aimetti, Eva Rybak, Fanhui Kong, Ian Miller, Joseph Hulihan, Scott Demarest

    Argitaratua 2023
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  20. 20
    Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial

    Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial nork Jenny Downs, Peter Jacoby, Nicola Specchio, H Cross, S Amin, Nadia Bahi‐Buisson, Rajsekar R. Rajaraman, Bernhard Suter, Orrin Devinsky, A Aimetti, Gregory D. Busse, Heather E. Olson, S Demarest, T A Benke, E Pestana-Knight

    Argitaratua 2024
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