Որոնման արդյունքները - Annie Laquerrière
- Ցուցադրվում են 1 - 20 արդյունքները 29
- Գնացեք Հաջորդ էջ
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Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis Dan Mejlachowicz, Flora Nolent, Jérôme Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Marta Gut, Damien Sternberg, Annie Laquerrière, Judith Melki
Հրապարակվել է 2015Artigo -
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PLGF, a placental marker of fetal brain defects after in utero alcohol exposure Matthieu Lecuyer, Annie Laquerrière, Soumeya Bekri, Céline Lesueur, Yasmina Ramdani, Sylvie Jégou, Arnaud Uguen, Pascale Marcorelles, Stéphane Marret, Bruno J. Gonzalez
Հրապարակվել է 2017Artigo -
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Autophagosome maturation is impaired in Fabry disease Marc Chévrier, Noureddine Brakch, Céline Lesueur, Damien Genty, Yasmina Ramdani, Solange Moll, Mojgan Djavaheri‐Mergny, Carole Brasse‐Lagnel, Annie Laquerrière, Frédéric Barbey, Soumeya Bekri
Հրապարակվել է 2010Artigo -
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Prenatal Alcohol Exposure Affects Vasculature Development in the Neonatal Brain Sylvie Jégou, Faiza El Ghazi, Pamela Kwetieu de Lendeu, Stéphane Marret, Vincent Laudenbach, Arnaud Uguen, Pascale Marcorelles, Vincent Roy, Annie Laquerrière, Bruno J. Gonzalez
Հրապարակվել է 2012Artigo -
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Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases 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
Հրապարակվել է 2008Artigo -
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Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene 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
Հրապարակվել է 2017Artigo -
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Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma Maxime Fontanilles, Florent Marguet, Ludivine Beaussire, Nicolas Magné, Louis‐Ferdinand Pépin, Cristina Alexandru, Isabelle Tennevet, C. Hanzen, Olivier Langlois, Fabrice Jardin, Annie Laquerrière, Nasrin Sarafan‐Vasseur, Frédéric Di Fiore, Florian Clatot
Հրապարակվել է 2020Artigo -
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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 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
Հրապարակվել է 2018Artigo -
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Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis 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
Հրապարակվել է 2016Artigo -
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Non-invasive detection of somatic mutations using next-generation sequencing in primary central nervous system lymphoma 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
Հրապարակվել է 2017Artigo -
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Amyloid precursor protein controls cholesterol turnover needed for neuronal activity 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
Հրապարակվել է 2013Artigo -
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Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors 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
Հրապարակվել է 2016Artigo -
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 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
Հրապարակվել է 2014Artigo -
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Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly 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
Հրապարակվել է 2012Artigo -
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Progranulin null mutations in both sporadic and familial frontotemporal dementia 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
Հրապարակվել է 2007Artigo -
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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease 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
Հրապարակվել է 2018Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Medicine
Genetics
Gene
Pathology
Internal medicine
Neuroscience
Disease
Mutation
Cell biology
Phenotype
Anatomy
Cancer research
Fetus
Pregnancy
Arthrogryposis
Biochemistry
Cancer
Endocrinology
Epilepsy
Exome sequencing
Hypoplasia
Lissencephaly
Oncology
Agenesis of the corpus callosum
Alzheimer's disease
Central nervous system
Corpus callosum
Frameshift mutation
Pachygyria