Canlyniadau Chwilio - M. Jacquemont
- Dangos 1 - 3 canlyniadau o 3
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1
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia gan Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas
Cyhoeddwyd 2013Artigo -
2
A genome-wide DNA methylation signature for SETD1B-related syndrome gan I. Krzyzewska, Saskia M. Maas, Peter Henneman, K. Lip, A. Venema, Kristin Barañano, Anna Chassevent, Erfan Aref‐Eshghi, Anthonie J. van Essen, Tokiko Fukuda, Hiroko Ikeda, M. Jacquemont, H.-G. Kim, Audrey Labalme, M. E. Suzanne Lewis, Gaëtan Lesca, Irene Madrigal, Sonal Mahida, Naomichi Matsumoto, Raquel Rabionet, Evica Rajcan‐Separovic, Ying Qiao, Bekim Sadiković, Hirotomo Saitsu, David A. Sweetser, Mariëlle Alders, Marcel M.A.M. Mannens
Cyhoeddwyd 2019Artigo -
3
The landscape of epilepsy-related GATOR1 variants gan Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaëtan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Édouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Sanjay M. Sisodiya, Simona Balestrini, Natasha E. Schoeler, Laura Hernandez‐Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, C. L. P. Deckers, Bianca Berghuis, Ilse Wegner, Erik H. Niks, Floor E. Jansen, Kees P. J. Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, M. Jacquemont, Caroline Nava, Eric LeGuern, Sophie Julia, Antonio Gambardella, G. D’Orsi, Giovanni Crichiutti, Laurence Faivre, Véronique Darmency, Barbora Beňová, Pavel Kršek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartoloméi, Anne Lépine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard‐Mousnier, Julien Thévenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller‐Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostásy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac
Cyhoeddwyd 2018Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Genetics
Computational biology
Gene
Anophthalmia
Chromatin
DNA methylation
Epigenetics
Epilepsy
Evolutionary biology
Gene expression
Genetic heterogeneity
Histone
Histone methyltransferase
Homeobox
Human genetics
Medicine
Methylation
Methyltransferase
Microphthalmia
Missense mutation
Mutation
PAX6
Phenotype
Psychiatry
SOX2
Testis determining factor
Transcription factor
Y chromosome