检索结果 - Valérie Benoît
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De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability 由 Michael Parker, Alan Fryer, Deborah Shears, Katherine Lachlan, Shane McKee, Alex Magee, Shehla Mohammed, Pradeep Vasudevan, Soo‐Mi Park, Valérie Benoît, Damien Lederer, Isabelle Maystadt, DDD Study, David Fitzpatrick
出版 2015Artigo -
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Transcriptional activation of cyclooxygenase-2 by tumor suppressor p53 requires nuclear factor-kappaB 由 Valérie Benoît, Emanuela de Moraes, Nazir Ahmad Dar, E. Taranchon, Vincent Bours, A. Hautefeuille, Philippe Tanière, Alain Chariot, J‐Y Scoazec, C. V. de Moura Gallo, M-P Merville, Pierre Hainaut
出版 2006Artigo -
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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic<i>CNTNAP2</i>aberrations allow delineation of the mutational and phenotypic spectrum 由 Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie‐Cécile Nassogne, Elizabeth E. Palmer, Marie Deprez, Valérie Benoît, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gécz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
出版 2016Artigo -
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Shaping the Future of Probiotics and Prebiotics 由 Marla Cunningham, M. Andrea Azcárate-Peril, Alan Barnard, Valérie Benoit, Roberta Grimaldi, Denis Guyonnet, Hannah D. Holscher, Kirsty Hunter, Sarmauli Manurung, David Obis, Mariya Petrova, Robert E. Steinert, Kelly S. Swanson, Douwe van Sinderen, Jelena Vulevic, Glenn R. Gibson
出版 2021Revisão -
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Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies 由 Emma Ashton, Anne Debost‐Legrand, Valérie Benoît, Isabelle Roncelin, Annabelle Vénisse, Maria‐Christina Zennaro, Xavier Jeunemaı̂tre, Daniela Iancu, William G. van’t Hoff, Stephen B. Walsh, Nathalie Godefroid, Annelies Rotthier, Elena Del Favero, Olivier Devuyst, Franz Schaefer, Lucy Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas‐Poussou, Detlef Böckenhauer
出版 2018Artigo -
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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients 由 Stéphanie Moortgat, Siren Berland, Ingvild Aukrust, Isabelle Maystadt, Laura Baker, Valérie Benoît, Alfonso Caro‐Llopis, Nicola Cooper, François‐Guillaume Debray, Laurence Faivre, Thatjana Gardeitchik, Bjørn Ivar Haukanes, Gunnar Houge, Emma Kivuva, Francisco Martı́nez, Sarju Mehta, Marie‐Cécile Nassogne, Nina Powell‐Hamilton, Rolph Pfundt, Mónica Roselló, Trine Prescott, Pradeep Vasudevan, Barbara van Loon, Christine Verellen‐Dumoulin, Alain Verloès, Charlotte von der Lippe, Emma Wakeling, Andrew O.M. Wilkie, Louise C. Wilson, Amy Lawson Yuen, Ddd Study, Karen Low, Ruth Newbury‐Ecob
出版 2017Artigo -
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype 由 Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang‐Muritano, Conny M.A. van Ravenswaaij‐Arts, Marwan Shinawi, Marisa V. Andrews, Tania Attié‐Bitach, Isabelle Maystadt, Newell Belnap, Valérie Benoît, Geoffroy Delplancq, Bert B.A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica H. Wojcik, Markus Zweier, Or Gozani, Anita Rauch
出版 2021Artigo -
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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 由 Víctor Faúndes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Björnsson, Lisa Bradley, Angela F. Brady, Elise Brischoux‐Boucher, Han G. Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, M. Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane A. Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond G. Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchèse, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoît, Damien Lederer, Siddharth Banka
出版 2021Artigo -
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<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity 由 Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A. Rouleau, Fadi F. Hamdan, Jacques L. Michaud, Jenny Morton, Jessica A. Radley, Nicola Ragge, Sixto García‐Miñaúr, Pablo Lapunzina, María Palomares‐Bralo, María Ángeles Mori, Stéphanie Moortgat, Valérie Benoît, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K. Vaux, Nataliya Di Donato, Andrea Hanson‐Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalová, Markéta Havlovičová, Miroslava Hančárová, Magdalena Budişteanu, Annelies Dheedene, Björn Menten, Patrick A. Dion, Damien Lederer, Bert Callewaert
出版 2017Artigo -
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<i>STXBP1</i> encephalopathy 由 Hannah Stamberger, Marina Nikanorova, Marjolein H. Willemsen, Patrizia Accorsi, Marco Angriman, Hartmut Baier, Ira Benkel-Herrenbrueck, Valérie Benoît, M Budetta, Almuth Caliebe, Gaetano Cantalupo, Giuseppe Capovilla, Gianluca Casara, Carolina Courage, Marie Deprez, Anne Destrèe, Robertino Dilena, Corrie E. Erasmus, Madeleine Fannemel, Roar Fjær, Lucio Giordano, Katherine L. Helbig, Henrike Heyne, Joerg Klepper, Gerhard Kluger, Damien Lederer, Monica Lodi, Oliver Maier, Andreas Merkenschlager, Nina Michelberger, Carlo Minetti, Hiltrud Muhle, Judith Phalin, Keri Ramsey, Antonino Romeo, Jens Schallner, Ina Schanze, Marwan Shinawi, Kristel Sleegers, Katalin Štěrbová, Steffen Syrbe, Monica Traverso, Andreas Tzschach, Peter Uldall, Rudy Van Coster, Hélène Verhelst, Maurizio Viri, Susan Winter, Markus Wolff, Martin Zenker, Leonardo Zoccante, Peter De Jonghe, Ingo Helbig, Pasquale Striano, Johannes R. Lemke, Rikke S. Møller, Sarah Weckhuysen
出版 2016Revisão
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