The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome

Por Attout, Lucie, Noël, Marie-Pascale, Nassogne, Marie-Cécile, Rousselle, Laurence
Publicado no PLoS One (2017)

A gene encoding a putative FAD-dependent l-2-hydroxyglutarate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria

Por Rzem, Rim, Veiga-da-Cunha, Maria, Noël, Gaëtane, Goffette, Sophie, Nassogne, Marie-Cécile, Tabarki, Brahim, Schöller, Christina, Marquardt, Thorsten, Vikkula, Miikka, Van Schaftingen, Emile
Publicado em 2004

MAN1B1 Deficiency: An Unexpected CDG-II

Por Rymen, Daisy, Peanne, Romain, Millón, María B., Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G., Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Publicado em 2013

Pandemic A/H1N1v influenza 2009 in hospitalized children: a multicenter Belgian survey

Por Blumental, Sophie, Huisman, Elisabeth, Cornet, Marie-Coralie, Ferreiro, Christine, De Schutter, Iris, Reynders, Marijke, Wybo, Ingrid, Kabamba-Mukadi, Benoît, Armano, Ruth, Hermans, Dominique, Nassogne, Marie-Cécile, Mahadeb, Bhavna, Fonteyne, Christine, Van Berlaer, Gerlant, Levy, Jack, Moulin, Didier, Vergison, Anne, Malfroot, Anne, Lepage, Philippe
Publicado em 2011

Inherited CARD9 deficiency in otherwise healthy children and adults with meningo-encephalitis and/or colitis caused by Candida

Por Lanternier, Fanny, Mahdaviani, Seyed Alireza, Barbati, Elisa, Chaussade, Hélène, Koumar, Yatrika, Levy, Romain, Denis, Blandine, Brunel, Anne-Sophie, Martin, Sophie, Loop, Michèle, Peeters, Julie, de Selys, Ariel, Vanclaire, Jean, Vermylen, Christiane, Nassogne, Marie-Cécile, Chatzis, Olga, Liu, Luyan, Migaud, Mélanie, Pedergnana, Vincent, Desoubeaux, Guillaume, Jouvion, Gregory, Chretien, Fabrice, Darazam, Ilad Alavi, Schäffer, Alejandro A., Netea, Mihai G., De Bruycker, Jean-Jacques, Bernard, Louis, Reynes, Jacques, Amazrine, Noureddine, Abel, Laurent, Van der Linden, Dimitri, Harrison, Tom, Picard, Capucine, Lortholary, Olivier, Mansouri, Davood, Casanova, Jean-Laurent, Puel, Anne
Publicado no J Allergy Clin Immunol (2015)

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Por Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Publicado no Am J Hum Genet (2016)

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Por Lardelli, Rea M., Schaffer, Ashleigh E., Eggens, Veerle R.C., Zaki, Maha S., Grainger, Stephanie L., Sathe, Shashank, Van Nostrand, Eric L., Schlachetzki, Zinayida, Rosti, Basak, Akizu, Naiara, Scott, Eric, Heckman, Laura Dean, Rosti, Rasim Ozgur, Dikoglu, Esra, Gregor, Anne, Guemez-Gamboa, Alicia, Musaev, Damir, Mande, Rohit, Widjaja, Ari, Shaw, Tim L., Markmiller, Sebastian, Marin-Valencia, Isaac, Davies, Justin H., de Meirleir, Linda, Kayserili, Hulya, Altunoglu, Umut, Freckmann, Mary Louise, Warwick, Linda, Chitayat, David, Çağlayan, Ahmet Okay, Bilguvar, Kaya, Per, Huseyin, Fagerberg, Christina, Kibaek, Maria, Aldinger, Kimberley A., Manchester, David, Matsumoto, Naomichi, Muramatsu, Kazuhiro, Saitsu, Hirotomo, Shiina, Masaaki, Ogata, Kazuhiro, Foulds, Nicola, Dobyns, William B., Chi, Neil, Traver, David, Spaccini, Luigina, Bova, Stefania Maria, Gabriel, Stacey B., Gunel, Murat, Valente, Enza Maria, Nassogne, Marie-Cecile, Bennett, Eric J., Yeo, Gene W., Baas, Frank, Lykke-Andersen, Jens, Gleeson, Joseph G.
Publicado no Nat Genet (2017)