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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies Heron, Delphine; Gerasimenko, Anna; Frugere, Lisa; Ducourneau, Jade; Rossi, Capucine; Nava, Caroline; De Sainte-Agathe, Jean-Madeleine; Mignot, Cyril; Lehalle, Daphne; Grotto, Sarah; El-Khattabi, Laila; Nguyen, Toan; Garel, Catherine; Blondiaux, Eleonore; Milh, Mathieu; Desnous, Beatrice; Girard, Nadine; des Portes, Vincent; Guibaud, Laurent; Sabatier, Isabelle; Patat, Olivier; Julia, Sophie; Benachi, Alexandra; Vivanti, Alexandre; Picone, Olivier; Guet, Agnes; Nizon, Mathilde; Vincent, Marie; Conrad, Solene; Le Vaillant, Claudine; Billette De Villemeur, Thierry; Moutton, Sebastien; Tsatsaris, Vassilis; Guilbaud, Lucie; Jouannic, Jean-Marie; Valence, Stephanie; Keren, Boris; Heide, Solveig Share Save
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Burst of gyrification in the human brain after birth Mihailov, Angeline; Pron, Alexandre; Lefevre, Julien; Deruelle, Christine; Desnous, Beatrice; Bretelle, Florence; Manchon, Aurelie; Milh, Mathieu; Rousseau, Francois; Girard, Nadine; Auzias, Guillaume Share Save
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Moller, Rikke S.; Bayat, Allan; Weckhuysen, Sarah Share Save
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Stereoelectroencephalographic exploration and surgical outcome in Lennox-Gastaut syndrome Cho, Soomi; Makhalova, Julia; Villalon, Samuel Medina; Villeneuve, Nathalie; Trebuchon, Agnes; Krouma, Manel; Scavarda, Didier; Lepine, Anne; Milh, Mathieu; Carron, Romain; Bonini, Francesca; Daquin, Geraldine; Aubert, Sandrine; Lagarde, Stanislas; Pizzo, Francesca; Bartolomei, Fabrice Share Save
Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls Kan, Anthony S. H.; Kusay, Ali S.; Mohammadi, Nazanin A.; Lin, Susan X. N.; Liao, Vivian W. Y.; Lesca, Gaetan; Souci, Sabrine; Milh, Mathieu; Christophersen, Palle; Chebib, Mary; Moller, Rikke S.; Absalom, Nathan L.; Jensen, Anders A.; Ahring, Philip K. Share Save
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants Mohammadi, Nazanin Azarinejad; Ahring, Philip Kiaer; Liao, Vivian Wan Yu; Chua, Han Chow; Rosa, Sebastian Ortiz de la; Johannesen, Katrine Marie; Michaeli-Yossef, Yael; Vincent-Devulder, Aline; Meridda, Catherine; Bruel, Ange-Line; Rossi, Alessandra; Patel, Chirag; Klepper, Joerg; Bonanni, Paolo; Minghetti, Sara; Trivisano, Marina; Specchio, Nicola; Amor, David; Auvin, Stephane; Baer, Sarah; Meyer, Pierre; Milh, Mathieu; Salpietro, Vincenzo; Maroo, Reza; Lemke, Johannes R.; Weckhuysen, Sarah; Christophersen, Palle; Rubboli, Guido; Chebib, Mary; Jensen, Anders A.; Absalom, Nathan L.; Moller, Rikke Steensbjerre Share Save
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability Khosrowabadi, Elham; Mignon-Ravix, Cecile; Riccardi, Florence; Cacciagli, Pierre; Desnous, Beatrice; Sigaudy, Sabine; Milh, Mathieu; Villard, Laurent; Kjellen, Lena; Molinari, Florence Share Save
Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study Aim, Marie-Anastasie; Rousseau, Marie-Christine; Hamouda, Ilyes; Anzola, Any Beltran; de Villemeur, Thierry Billette; Milh, Mathieu; Maincent, Kim; Lind, Katia; Auquier, Pascal; Baumstarck, Karine; Dany, Lionel Share Save
Further characterisation of ARX-related disorders in females due to inherited or de novo variants Gras, Mathilde; Heide, Solveig; Keren, Boris; Valence, Stephanie; Garel, Catherine; Whalen, Sandra; Jansen, Anna C.; Keymolen, Kathelijn; Stouffs, Katrien; Jennesson, Melanie; Poirsier, Celine; Lesca, Gaetan; Depienne, Christel; Nava, Caroline; Rastetter, Agnes; Curie, Aurore; Cuisset, Laurence; Des Portes, Vincent; Milh, Mathieu; Charles, Perrine; Mignot, Cyril; Heron, Delphine Share Save
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