检索结果 - Hully, Marie

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis? 由 Benjumea-Cuartas, Vanessa, Eisermann, Monika, Simonnet, Hina, Hully, Marie, Nabbout, Rima, Desguerre, Isabelle, Kaminska, Anna

获取全文 获取全文 获取全文

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes 由 Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima

获取全文 获取全文 获取全文

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum 由 Bahi-Buisson, Nadia, Souville, Isabelle, Fourniol, Franck J., Toussaint, Aurelie, Moores, Carolyn A., Houdusse, Anne, Yves Lemaitre, Jean, Poirier, Karine, Khalaf-Nazzal, Reham, Hully, Marie, Louis Leger, Pierre, Elie, Caroline, Boddaert, Nathalie, Beldjord, Cherif, Chelly, Jamel, Francis, Fiona

获取全文 获取全文 获取全文

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports 由 Hully, Marie, Barnerias, Christine, Chabalier, Delphine, Le Guen, Sophie, Germa, Virginie, Deladriere, Elodie, Vanhulle, Catherine, Cuisset, Jean-Marie, Chabrol, Brigitte, Cances, Claude, Vuillerot, Carole, Espil, Caroline, Mayer, Michele, Nougues, Marie-Christine, Sabouraud, Pascal, Lefranc, Jeremie, Laugel, Vincent, Rivier, Francois, Louvier, Ulrike Walther, Durigneux, Julien, Napuri, Sylvia, Sarret, Catherine, Renouil, Michel, Masurel, Alice, Viallard, Marcel-Louis, Desguerre, Isabelle

获取全文 获取全文 获取全文

Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children 由 Aubart, Melodie, Roux, Charles-Joris, Durrleman, Chloé, Gins, Clarisse, Hully, Marie, Kossorotoff, Manoelle, Gitiaux, Cyril, Levy, Raphaël, Moulin, Florence, Debray, Agathe, Belhadjer, Zahra, Georget, Emilie, Kom, Temi, Blanc, Philippe, Wehbi, Samer, Mazeghrane, Mustapha, Tencer, Jeremie, Gajdos, Vincent, Rouget, Sebastien, De Pontual, Loic, Basmaci, Romain, Yacouben, Karima, Angoulvant, Francois, Leruez-Ville, Marianne, Sterlin, Delphine, Rozenberg, Flore, Robert, Matthieu P., Zhang, Shen-Ying, Boddaert, Nathalie, Desguerre, Isabelle

获取全文 获取全文 获取全文

Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A 由 Lepelley, Alice, Della Mina, Erika, Van Nieuwenhove, Erika, Waumans, Lise, Fraitag, Sylvie, Rice, Gillian I., Dhir, Ashish, Frémond, Marie-Louise, Rodero, Mathieu P., Seabra, Luis, Carter, Edwin, Bodemer, Christine, Buhas, Daniela, Callewaert, Bert, de Lonlay, Pascale, De Somer, Lien, Dyment, David A., Faes, Fran, Grove, Lucy, Holden, Simon, Hully, Marie, Kurian, Manju A., McMillan, Hugh J., Suetens, Kristin, Tyynismaa, Henna, Chhun, Stéphanie, Wai, Timothy, Wouters, Carine, Bader-Meunier, Brigitte, Crow, Yanick J.

获取全文 获取全文 获取全文

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy 由 Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia

获取全文 获取全文 获取全文

Detection of interferon alpha protein reveals differential levels and cellular sources in disease 由 Rodero, Mathieu P., Decalf, Jérémie, Bondet, Vincent, Hunt, David, Rice, Gillian I., Werneke, Scott, McGlasson, Sarah L., Alyanakian, Marie-Alexandra, Bader-Meunier, Brigitte, Barnerias, Christine, Bellon, Nathalia, Belot, Alexandre, Bodemer, Christine, Briggs, Tracy A., Desguerre, Isabelle, Frémond, Marie-Louise, Hully, Marie, van den Maagdenberg, Arn M.J.M., Melki, Isabelle, Meyts, Isabelle, Musset, Lucile, Pelzer, Nadine, Quartier, Pierre, Terwindt, Gisela M., Wardlaw, Joanna, Wiseman, Stewart, Rieux-Laucat, Frédéric, Rose, Yoann, Neven, Bénédicte, Hertel, Christina, Hayday, Adrian, Albert, Matthew L., Rozenberg, Flore, Crow, Yanick J., Duffy, Darragh

获取全文 获取全文 获取全文

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans 由 Le, Thuy-Linh, Galmiche, Louise, Levy, Jonathan, Suwannarat, Pim, Hellebrekers, Debby M.E.I., Morarach, Khomgrit, Boismoreau, Franck, Theunissen, Tom E.J., Lefebvre, Mathilde, Pelet, Anna, Martinovic, Jelena, Gelot, Antoinette, Guimiot, Fabien, Calleroz, Amanda, Gitiaux, Cyril, Hully, Marie, Goulet, Olivier, Chardot, Christophe, Drunat, Severine, Capri, Yline, Bole-Feysot, Christine, Nitschké, Patrick, Whalen, Sandra, Mouthon, Linda, Babcock, Holly E., Hofstra, Robert, de Coo, Irenaeus F.M., Tabet, Anne-Claude, Molina, Thierry J., Keren, Boris, Brooks, Alice, Smeets, Hubert J.M., Marklund, Ulrika, Gordon, Christopher T., Lyonnet, Stanislas, Amiel, Jeanne, Bondurand, Nadège

获取全文 获取全文 获取全文

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease 由 Rice, Gillian I., Kitabayashi, Naoki, Barth, Magalie, Briggs, Tracy A., Burton, Annabel C.E., Carpanelli, Maria Luisa, Cerisola, Alfredo M., Colson, Cindy, Dale, Russell C., Danti, Federica Rachele, Darin, Niklas, De Azua, Begoña, De Giorgis, Valentina, De Goede, Christian G. L, Desguerre, Isabelle, De Laet, Corinne, Eslahi, Atieh, Fahey, Michael C., Fallon, Penny, Fay, Alex, Fazzi, Elisa, Gorman, Mark P., Gowrinathan, Nirmala Rani, Hully, Marie, Kurian, Manju A., Leboucq, Nicolas, Lin, Jean-Pierre S-M, Lines, Matthew A., Mar, Soe S., Maroofian, Reza, Martí-Sanchez, Laura, McCullagh, Gary, Mojarrad, Majid, Narayanan, Vinodh, Orcesi, Simona, Ortigoza-Escobar, Juan Dario, Pérez-Dueñas, Belén, Petit, Florence, Ramsey, Keri M., Rasmussen, Magnhild, Rivier, François, Rodríguez-Pombo, Pilar, Roubertie, Agathe, Stödberg, Tommy I., Toosi, Mehran Beiraghi, Toutain, Annick, Uettwiller, Florence, Ulrick, Nicole, Vanderver, Adeline, Waldman, Amy, Livingston, John H., Crow, Yanick J.

获取全文 获取全文 获取全文

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation 由 Cif, Laura, Demailly, Diane, Lin, Jean-Pierre, Barwick, Katy E, Sa, Mario, Abela, Lucia, Malhotra, Sony, Chong, Wui K, Steel, Dora, Sanchis-Juan, Alba, Ngoh, Adeline, Trump, Natalie, Meyer, Esther, Vasques, Xavier, Rankin, Julia, Allain, Meredith W, Applegate, Carolyn D, Attaripour Isfahani, Sanaz, Baleine, Julien, Balint, Bettina, Bassetti, Jennifer A, Baple, Emma L, Bhatia, Kailash P, Blanchet, Catherine, Burglen, Lydie, Cambonie, Gilles, Seng, Emilie Chan, Bastaraud, Sandra Chantot, Cyprien, Fabienne, Coubes, Christine, d’Hardemare, Vincent, Doja, Asif, Dorison, Nathalie, Doummar, Diane, Dy-Hollins, Marisela E, Farrelly, Ellyn, Fitzpatrick, David R, Fearon, Conor, Fieg, Elizabeth L, Fogel, Brent L, Forman, Eva B, Fox, Rachel G, Gahl, William A, Galosi, Serena, Gonzalez, Victoria, Graves, Tracey D, Gregory, Allison, Hallett, Mark, Hasegawa, Harutomo, Hayflick, Susan J, Hamosh, Ada, Hully, Marie, Jansen, Sandra, Jeong, Suh Young, Krier, Joel B, Krystal, Sidney, Kumar, Kishore R, Laurencin, Chloé, Lee, Hane, Lesca, Gaetan, François, Laurence Lion, Lynch, Timothy, Mahant, Neil, Martinez-Agosto, Julian A, Milesi, Christophe, Mills, Kelly A, Mondain, Michel, Morales-Briceno, Hugo, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A

获取全文 获取全文 获取全文