תוצאות חיפוש - Thibaud Jouan

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  1. 1
    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy מאת Anna Lauritano, Sébastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela

    יצא לאור 2019
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    Artigo
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  2. 2
    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

    Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing מאת Ange‐Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thévenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean‐Marçais, Martin Chevarin, Thibaud Jouan, Charlotte Pöe, Patrick Callier, Emilie Tisserand, Christophe Philippe, Frédéric Tran Mau‐Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin‐Robinet

    יצא לאור 2019
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    Artigo
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  3. 3
    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis מאת Sophie Nambot, Julien Thévenon, Paul Kuentz, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Daphné Lehalle, Nolwenn Jean‐Marçais, Mathilde Lefebvre, P. Vabres, Salima El Chehadeh-Djebbar, Christophe Philippe, Frédéric Tran Mau‐Them, Judith St‐Onge, Thibaud Jouan, Martin Chevarin, Charlotte Pöe, Virginie Carmignac, Antonio Vitobello, Patrick Callier, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    יצא לאור 2017
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    Artigo
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  4. 4
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy מאת Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    יצא לאור 2016
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    Artigo
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  5. 5
    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3

    Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3 מאת Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael Stadler, Marietta Zinner, Daniel Olivieri, P. Vabres, Laurence Duplomb, Eveline S.J.M. de Bont, Yannis Duffourd, Floor A.M. Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D. Lichtenbelt, Christel Thauvin‐Robinet, Judith St‐Onge, Julien Thévenon, Koen L.I. van Gassen, Mieke M. van Haelst, Silvana van Koningsbruggen, Daniel Heß, Sébastien A. Smallwood, Jean‐Baptiste Rivière, Laurence Faivre, Joerg Betschinger

    יצא לאור 2018
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    Artigo
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  6. 6
    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy

    De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy מאת Frédéric Tran Mau‐Them, Laurent Guibaud, Laurence Duplomb, Boris Keren, Kristin Lindstrom, Isabelle Marey, Fanny Mochel, M. J. van den Boogaard, Renske Oegema, Caroline Nava, Alice Masurel, Thibaud Jouan, Floor E. Jansen, Margaret Au, Agnes H. Chen, M. Cho, Yannis Duffourd, Ekaterina Lozier, Fedor A. Konovalov, Artem Sharkov, С. А. Коростелев, Benoit Urteaga, Patricia Dickson, M. Concepcion Nuñez Pardo de Vera, Julian A. Martínez‐Agosto, Anaïs Begemann, Markus Zweier, Thomas Schmitt‐Mechelke, Anita Rauch, Christophe Philippe, Koen L.I. van Gassen, S. F. Nelson, John M. Graham, Jennifer Friedman, Laurence Faivre, Henry J. Lin, Christel Thauvin‐Robinet, Antonio Vitobello

    יצא לאור 2018
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    Artigo
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  7. 7
    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

    Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing מאת Paul Kuentz, Judith St‐Onge, Yannis Duffourd, Jean‐Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, C. Abasq‐Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attié‐Bitach, Nadia Bahi‐Buisson, S. Barbarot, Geneviève Baujat, D. Bessis, O. Boccara, Maryse Bonnière, Odile Boute, A.‐C. Bursztejn, C. Chiavérini, Valérie Cormier‐Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Geneviève, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie‐Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jéléna Martinovic, A. Maruani, Michèle Mathieu‐Dramard, J. Mazereeuw‐Hautier, Caroline Michot, Cyril Mignot, J. Miquel, Fanny Morice‐Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloès, Marie Vincent, Catherine Vincent‐Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphné Lehalle, Julien Thévenon, Christel Thauvin‐Robinet, S. Hadj‐Rabia, Laurence Faivre, P. Vabres, Jean-Baptiste Rivière

    יצא לאור 2017
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    Artigo
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  8. 8
    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

    De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitse... מאת Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Émilie Tisserant, Ange‐Line Bruel, Sara El Kennani, Joaquim Sá, Karen Low, Cristina Dias, Markéta Havlovičová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van‐Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gérard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen V. Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref‐Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin‐Robinet, Yannis Duffourd, Jaya K. George‐Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Vincenzo Nigro, Nicola Brunetti‐Pierri, Giorgio Casari, Gerarda Cappuccio, Annalaura Torella, Annalaura Torella, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C. M. Hennekam, Bekim Sadiković, Julien Thevenon, Jérôme Govin, Antonio Vitobello, Nicola Brunetti‐Pierri

    יצא לאור 2020
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    Artigo
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