المؤلفون: Engel, Camille^{Aff1, IDs4143102301410z_cor1}, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S., Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line^{Aff12, Aff13}, Brusco, Alfredo, Bubshait, Dalal K., Cabrol, Christelle, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie^{Aff12, Aff13}, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine^{Aff22, Aff23, Aff24}, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph G., Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike L., Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor^{Aff34, Aff35}, Kraus, Dror^{Aff36, Aff37}, Kuentz, Paul^{Aff12, Aff38}, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril^{Aff41, Aff42}, Morris-Rosendahl, Déborah^{Aff43, Aff44}, Nagarajan, Lakshmi^{Aff45, Aff46}, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe^{Aff12, Aff13}, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey^{Aff51, Aff52}, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo^{Aff3, Aff54, Aff55}, Scheffer, Ingrid^{Aff56, Aff57}, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale^{Aff54, Aff55}, Valente, Enza Maria^{Aff59, Aff60}, Venot, Perrine, Villard, Laurent^{Aff20, Aff62}, Vitobello, Antonio^{Aff12, Aff13}, Wagner, Johanna, Wagner, Matias^{Aff11, Aff63, Aff64}, Zaki, Maha S., Zara, Federizo^{Aff54, Aff55}, Lesca, Gaetan^{Aff51, Aff66}, Yassaee, Vahid Reza, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette^{Aff1, Aff12}

المصدر: European Journal of Human Genetics. 31(9):1023-1031

المؤلفون: Chanclud, Justine^{Aff1, IDs00247022055313_cor1}, Valence, Stéphanie, Perre, Saskia Vande, Guilbaud, Lucie, Moutard, Marie-Laure, Jouannic, Jean-Marie, Ducou Le Pointe, Hubert, Blondiaux, Eléonore, Garel, Catherine

المصدر: Pediatric Radiology. 53(3):461-469

المؤلفون: Rive Le Gouard, Nicolas, Nicolle, Romain, Lefebvre, Mathilde, Gelot, Antoinette, Heide, Solveig, Gerasimenko, Anna, Grigorescu, Romulus, Derive, Nicolas, Jouannic, Jean-Marie, Garel, Catherine, Valence, Stéphanie, Quenum-Miraillet, Geneviève, Chantot-Bastaraud, Sandra, Keren, Boris, Heron, Delphine, Attie-Bitach, Tania

المصدر: In European Journal of Medical Genetics August 2023 66(8)

المؤلفون: Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W, Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R, Pagnamenta, Alistair T, Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C, Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A, Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A, Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M, Cooper, Gregory M, Aldinger, Kimberly A, Dobyns, William B, Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J, Keays, David Anthony

المصدر: Neuron. 100(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Rare Diseases, Pediatric, Genetics, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Neurological, Agenesis of Corpus Callosum, Animals, Animals, Newborn, Apoptosis, Brain, Cells, Cultured, Cerebellum, Child, Developmental Disabilities, Disease Models, Animal, Embryo, Mammalian, Female, Gene Expression Regulation, Developmental, Humans, Male, Malformations of Cortical Development, Mice, Mice, Inbred C57BL, Mice, Knockout, Microtubule-Associated Proteins, Mutation, Nerve Tissue Proteins, Nervous System Malformations, PAX6 Transcription Factor, MAST1, cerebellar hypoplasia, corpus callosum, microdeletion, microtubules, Psychology, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6zj1233t

المؤلفون: Helbig, Katherine L, Lauerer, Robert J, Bahr, Jacqueline C, Souza, Ivana A, Myers, Candace T, Uysal, Betül, Schwarz, Niklas, Gandini, Maria A, Huang, Sun, Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, de Villemeur, Thierry Billette, Héron, Delphine, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R, Soerensen, Kristina P, Kibaek, Maria, Kamsteeg, Erik-Jan, Koolen, David A, Gunning, Boudewijn, Schelhaas, H Jurgen, Kruer, Michael C, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C, Klee, Eric W, Tillema, Jan-Mendelt, Payne, Eric T, Cousin, Margot A, Kruisselbrink, Teresa M, Wick, Myra J, Baker, Joshua, Haan, Eric, Smith, Nicholas, Sadeghpour, Azita, Davis, Erica E, Katsanis, Nicholas, Genomics, Task Force for Neonatal, Allori, Alexander, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Boyd, Brita, Chambers, Eileen, Cope, Heidi, Cotten, C Michael, Curington, Theresa, Ellestad, Sarah, Fisher, Kimberley, French, Amanda, Gallentine, William, Goldberg, Ronald, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Purves, Todd, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A, MacLennan, Alastair H, Gecz, Jozef, Biskup, Saskia, Goldmann, Eva, Rodan, Lance H, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E, Asamoah, Alexander, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D, Filloux, Francis, Tvrdik, Tatiana, Cascino, Gregory D

المصدر: American Journal of Human Genetics. 103(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Neurodegenerative, Brain Disorders, Neurosciences, Epilepsy, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Calcium Channels, R-Type, Cation Transport Proteins, Child, Child, Preschool, Contracture, Dyskinesias, Female, Genetic Variation, Humans, Infant, Male, Megalencephaly, Neurodevelopmental Disorders, Spasms, Infantile, Task Force for Neonatal Genomics, Deciphering Developmental Disorders Study, CACNA1E, ion channel, arthrogryposis, calcium channel, epilepsy, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2061z9kg

المؤلفون: Coursimault, Juliette, Guerrot, Anne-Marie, Morrow, Michelle M., Schramm, Catherine, Zamora, Francisca Millan, Shanmugham, Anita, Liu, Shuxi, Zou, Fanggeng, Bilan, Frédéric, Le Guyader, Gwenaël, Bruel, Ange-Line^{Aff4, Aff5}, Denommé-Pichon, Anne-Sophie^{Aff4, Aff5}, Faivre, Laurence^{Aff4, Aff6}, Tran Mau-Them, Frédéric^{Aff4, Aff5}, Tessarech, Marine, Colin, Estelle^{Aff7, Aff8}, El Chehadeh, Salima, Gérard, Bénédicte, Schaefer, Elise, Cogne, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Doummar, Diane, Valence, Stéphanie, Héron, Delphine, Keren, Boris, Mignot, Cyril, Coutton, Charles, Devillard, Françoise, Alaix, Anne-Sophie, Amiel, Jeanne, Colleaux, Laurence, Munnich, Arnold, Poirier, Karine, Rio, Marlène, Rondeau, Sophie, Barcia, Giulia, Callewaert, Bert, Dheedene, Annelies, Kumps, Candy, Vergult, Sarah, Menten, Björn, Chung, Wendy K., Hernan, Rebecca, Larson, Austin, Nori, Kelly, Stewart, Sarah, Wheless, James, Kresge, Christina, Pletcher, Beth A., Caumes, Roseline, Smol, Thomas, Sigaudy, Sabine, Coubes, Christine, Helm, Margaret, Smith, Rosemarie, Morrison, Jennifer, Wheeler, Patricia G., Kritzer, Amy, Jouret, Guillaume, Afenjar, Alexandra, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Poitou, Christine, Frebourg, Thierry, Houdayer, Claude, Saugier-Veber, Pascale, Nicolas, Gaël, Lecoquierre, François^{Aff1, IDs0043902102383z_cor70}

المصدر: Human Genetics. 141(1):65-80

المؤلفون: Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

المصدر: eLife, 12 (2023-01-17)

مصطلحات موضوعية: TRPM3, cell biology, cerebellar atrophy, epilepsy, gain-of-function, human, intellectual disability, neurodevelopment, neuroscience, Neurosteroids, Ion Channels, TRPM Cation Channels, TRPM3 protein, human, Animals, Humans, Gain of Function Mutation, Ion Channels/genetics, Mammals/metabolism, Neurodevelopmental Disorders/genetics, Epilepsy/genetics, TRPM Cation Channels/genetics, TRPM Cation Channels/metabolism, Mammals, Neurodevelopmental Disorders, Neuroscience (all), Biochemistry, Genetics and Molecular Biology (all), Immunology and Microbiology (all), General Immunology and Microbiology, General Biochemistry, Genetics and Molecular Biology, General Medicine, General Neuroscience, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

Relation: https://cdn.elifesciences.org/articles/81032/elife-81032-v3.pdf; urn:issn:2050-084X

URL الوصول: https://orbi.uliege.be/handle/2268/313877

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المؤلفون: Heide, Solveig, Argilli, Emanuela, Valence, Stéphanie, Boutaud, Lucile, Roux, Nathalie, Mignot, Cyril, Nava, Caroline, Keren, Boris, Giraudat, Kim, Faudet, Anne, Gerasimenko, Anna, Garel, Catherine, Blondiaux, Eleonore, Rastetter, Agnès, Grevent, David, Le, Carolyn, Mackenzie, Lisa, Richards, Linda, Attié-Bitach, Tania, Depienne, Christel

المصدر: Journal of Medical Genetics; Mar2024, Vol. 61 Issue 3, p244-249, 6p

المؤلفون: Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C., Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine

المصدر: Journal of Medical Genetics; Feb2024, Vol. 61 Issue 2, p103-108, 17p