Canlyniadau Chwilio - Leboucq, Nicolas

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report gan Thaller, Penelope, Blanchet, Catherine, Badr, Maliha, Mesnage, Renaud, Leboucq, Nicolas, Mondain, Michel, Cambonie, Gilles

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Isolated neonatal bilateral vocal cord paralysis revealing a unilateral medullary defect: a case report gan Brotelande, Camille, Leboucq, Nicolas, Akkari, Mohamed, Roujeau, Thomas, Di Maio, Massimo, Milési, Christophe, Mondain, Michel, Raybaud, Charles, Cambonie, Gilles

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Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35 gan Marelli, Cecilia, Salih, Mustafa A., Nguyen, Karine, Mallaret, Martial, Leboucq, Nicolas, Hassan, Hamdy H., Drouot, Nathalie, Labauge, Pierre, Koenig, Michel

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Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke gan Demailly, Diane, Vianey‐Saban, Christine, Acquaviva, Cécile, Gonzalez, Victoria, Rubio, Isabel De Antonio, Cyprien, Fabienne, Roujeau, Thomas, Masoliver, Adria, Leboucq, Nicolas, Coubes, Philippe, Cif, Laura

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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! gan Roubertie, Agathe, Charif, Majida, Meyer, Pierre, Manes, Gael, Meunier, Isabelle, Taieb, Guillaume, Junta Morales, Raul, Guichet, Agnès, Delettre, Cecile, Sarzi, Emmanuelle, Leboucq, Nicolas, Rivier, François, Lenaers, Guy

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AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? gan Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P., Lenaers, Guy

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Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis gan Curie, Aurore, Touil, Nathalie, Gaillard, Ségolène, Galanaud, Damien, Leboucq, Nicolas, Deschênes, Georges, Morin, Denis, Abad, Fanny, Luauté, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cécile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, François, Bertholet-Thomas, Aurélia

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Novel dominant distal titinopathy phenotype associated with copy number variation gan Perrin, Aurélien, Juntas Morales, Raul, Chapon, Françoise, Thèze, Corinne, Lacourt, Delphine, Pégeot, Henri, Uro‐Coste, Emmanuelle, Giovannini, Diane, Leboucq, Nicolas, Mallaret, Martial, Lagrange, Emmeline, Rigau, Valérie, Gaudon, Karen, Richard, Pascale, Koenig, Michel, Métay, Corinne, Cossée, Mireille

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An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie... gan Juntas Morales, Raul, Perrin, Aurélien, Solé, Guilhem, Lacourt, Delphine, Pegeot, Henri, Walther-Louvier, Ulrike, Cintas, Pascal, Cances, Claude, Espil, Caroline, Theze, Corinne, Zenagui, Reda, Yauy, Kevin, Cosset, Elodie, Renard, Dimitri, Rigau, Valerie, Maues de Paula, Andre, Uro-Coste, Emmanuelle, Arne-Bes, Marie-Christine, Martin Négrier, Marie-Laure, Leboucq, Nicolas, Acket, Blandine, Malfatti, Edoardo, Biancalana, Valérie, Metay, Corinne, Richard, Pascale, Rendu, John, Rivier, François, Koenig, Michel, Cossée, Mireille

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development gan Zillhardt, Julia Lauer, Poirier, Karine, Broix, Loïc, Lebrun, Nicolas, Elmorjani, Adrienne, Martinovic, Jelena, Saillour, Yoann, Muraca, Giuseppe, Nectoux, Juliette, Bessieres, Bettina, Fallet-Bianco, Catherine, Lyonnet, Stanislas, Dulac, Olivier, Odent, Sylvie, Rejeb, Imen, Jemaa, Lamia Ben, Rivier, Francois, Pinson, Lucile, Geneviève, David, Musizzano, Yuri, Bigi, Nicole, Leboucq, Nicolas, Giuliano, Fabienne, Philip, Nicole, Vilain, Catheline, Van Bogaert, Patrick, Maurey, Hélène, Beldjord, Cherif, Artiguenave, François, Boland, Anne, Olaso, Robert, Masson, Cécile, Nitschké, Patrick, Deleuze, Jean-François, Bahi-Buisson, Nadia, Chelly, Jamel

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans gan Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.

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Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease gan 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.

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia gan Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien

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