Søgeresultater - Annie Laquerrière

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  1. 1
    Giant epidermoid cyst of the occipital area with bone invasion: A case report

    Giant epidermoid cyst of the occipital area with bone invasion: A case report af Alorini, Mohammed, Vianney, Gilard, Florent, Marguet, Olivier, Langlois, Annie, Laquerrière

    Udgivet 2018
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  2. 2
    Microangiopathy in primary familial brain calcification: Evidence from skin biopsies

    Microangiopathy in primary familial brain calcification: Evidence from skin biopsies af Gaël Nicolas, Florent Marguet, Annie Laquerrière, João Ricardo Mendes de Oliveira, Didier Hannequin

    Udgivet 2017
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    Artigo
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  3. 3
    Diagnosis and Management of Glioblastoma: A Comprehensive Perspective

    Diagnosis and Management of Glioblastoma: A Comprehensive Perspective af Vianney Gilard, Abdellah Tebani, Ivana Dabaj, Annie Laquerrière, Maxime Fontanilles, Stéphane Derrey, Stéphane Marret, Soumeya Bekri

    Udgivet 2021
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  4. 4
    Tubulin mutations in human neurodevelopmental disorders

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

    Udgivet 2022
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  5. 5
    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

    Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis af Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

    Udgivet 2015
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    Artigo
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  6. 6
    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure

    PLGF, a placental marker of fetal brain defects after in utero alcohol exposure af Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J. Gonzalez

    Udgivet 2017
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  7. 7
    Autophagosome maturation is impaired in Fabry disease

    Autophagosome maturation is impaired in Fabry disease af Marc Chévrier, Noureddine Brakch, Céline Lesueur, Damien Genty, Yasmina Ramdani, Solange Moll, Mojgan Djavaheri‐Mergny, Carole Brasse‐Lagnel, Annie Laquerrière, Frédéric Barbey, Soumeya Bekri

    Udgivet 2010
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  8. 8
    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain

    Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain af Sylvie Jégou, Faiza El Ghazi, Pamela Kwetieu de Lendeu, Stéphane Marret, Vincent Laudenbach, Arnaud Uguen, Pascale Marcorelles, Vincent Roy, Annie Laquerrière, Bruno J. Gonzalez

    Udgivet 2012
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  9. 9
    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases

    Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases af Laurent Pasquier, Pascale Marcorelles, Philippe Loget, Fanny Pelluard, Dominique Carles, Marie‐Josée Perez, Claude Bendavid, Céline de La Rochebrochard, M. Ferry, Véronique David, Sylvie Odent, Annie Laquerrière

    Udgivet 2008
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  10. 10
    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

    Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene af Pascale Saugier‐Veber, Florent Marguet, François Lecoquierre, Homa Adle‐Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, M. Brasseur‐Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière

    Udgivet 2017
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  11. 11
    Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease

    Patterns and severity of vascular amyloid in Alzheimer’s disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer’s disease af David M. A. Mann, Yvonne S. Davidson, Andrew Robinson, N.P. Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S. Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, V. P. Prasher, Takeshi Iwatsubo, André Strydom

    Udgivet 2018
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  12. 12
    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

    Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis af Jérôme Maluenda, Constance Manso, Loïc Quevarec, Alexandre Vivanti, Florent Marguet, Marie Gonzalès, Fabien Guimiot, Florence Petit, Annick Toutain, Sandra Whalen, R Grigorescu, Anne Dieux Coeslier, Marta Gut, Marta Gut, Annie Laquerrière, Jérôme Devaux, Judith Melki

    Udgivet 2016
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  13. 13
    Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma

    Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma af Maxime Fontanilles, Florent Marguet, Élodie Bohers, Pierre‐Julien Viailly, Sydney Dubois, Philìppe Bertrand, Vincent Camus, Sylvain Mareschal, Philippe Ruminy, Catherine Maingonnat, Stéphane Leprêtre, Elena-Liana Veresezan, Stéphane Derrey, Hervé Tilly, Jean-Michel Picquenot, Annie Laquerrière, Fabrice Jardin

    Udgivet 2017
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  14. 14
    Amyloid precursor protein controls cholesterol turnover needed for neuronal activity

    Amyloid precursor protein controls cholesterol turnover needed for neuronal activity af Nathalie Pierrot, Donatienne Tyteca, Ludovic D’Auria, Ilse Dewachter, Philippe Gailly, Aurélie Hendrickx, Bernadette Tasiaux, Laetitia El Haylani, Nathalie Muls, Francisca N’Kuli, Annie Laquerrière, Jean‐Baptiste Demoulin, Dominique Campion, Jean‐Pierre Brion, Pierre J. Courtoy, Pascal Kienlen‐Campard, Jean‐Noël Octave

    Udgivet 2013
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  15. 15
    Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors

    Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors af Arnault Tauziède‐Espariat, Damien Bresson, Marc Polivka, S. Bouazza, François Labrousse, Eleonora Aronica, Jean‐Luc Prétet, Fabrice Projetti, Philippe Herman, Henri Salle, Franck Monnien, Séverine Valmary‐Degano, Annie Laquerrière, Marc Pocard, L. Chaigneau, Nicolás Isambert, Marie‐Hélène Aubriot‐Lorton, L. Feuvret, Bernard George, Sébastien Froelich, Homa Adle‐Biassette

    Udgivet 2016
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  16. 16
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly af Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson

    Udgivet 2014
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  17. 17
    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

    Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly af Sandrine Vuillaumier‐Barrot, C. Bouchet-Séraphin, M. Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet‐Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clémenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bôle‐Feysot, Jean‐Pierre Bernard, Laurence Lœuillet, Marie Gonzalès, Koryna Socha, Bernard Grandchamp, Tania Attié‐Bitach, Férechté Encha‐Razavi, Nathalie Seta

    Udgivet 2012
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  18. 18
    Progranulin null mutations in both sporadic and familial frontotemporal dementia

    Progranulin null mutations in both sporadic and familial frontotemporal dementia af Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck, Bruno Dubois, François Sellal, Lucette Lacomblez, Martine Vercelletto, Catherine Thomas-Antérion, Bernard‐François Michel, Véronique Golfier, Mira Didic, François Salachas, Charles Duyckaerts, Marc Cruts, Patrice Verpillat, Christine Van Broeckhoven, Alexis Brice

    Udgivet 2007
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  19. 19
    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease

    Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease af Gaël Nicolas, Rocío Acuña‐Hidalgo, Michael J. Keogh, Olivier Quenez, Marloes Steehouwer, Stefan H. Lelieveld, Stéphane Rousseau, Anne‐Claire Richard, Manon S. Oud, Florent Marguet, Annie Laquerrière, Christopher M. Morris, Johannes Attems, Colin Smith, Olaf Ansorge, Safa Al Sarraj, Thierry Frébourg, Dominique Campion, Didier Hannequin, David Wallon, Christian Gilissen, Patrick F. Chinnery, Joris A. Veltman, Alexander Hoischen

    Udgivet 2018
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  20. 20
    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

    Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies af Louise Devisme, C Bouchet, Marie Gonzalès, Elisabeth Alanio, Anne Bazin, Bettina Bessières, Nicole Bigi, Patricia Blanchet, Dominique Bonneau, Maryse Bonnières, Martine Bucourt, Dominique Carles, Bénédicte Clarisse, S. Delahaye, Catherine Fallet‐Bianco, Dominique Figarella‐Branger, Dominique Gaillard, Bernard Gasser, Anne‐Lise Delezoide, Fabien Guimiot, Madeleine Joubert, Nicole Laurent, Annie Laquerrière, Agnès Liprandi, Philippe Loget, Pascale Marcorelles, Jéléna Martinovic, Françoise Ménez, Sophie Patrier, Fanny Pelluard, Marie-José Perez, Caroline Rouleau, Stéphane Triau, Tania Attié‐Bitach, Sandrine Vuillaumier‐Barrot, Nathalie Seta, Férechté Encha‐Razavi

    Udgivet 2012
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