Hakutulokset - Nassogne, Marie-Cécile

The role of short-term memory and visuo-spatial skills in numerical magnitude processing: Evidence from Turner syndrome Tekijä Attout, Lucie, Noël, Marie-Pascale, Nassogne, Marie-Cécile, Rousselle, Laurence

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Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance Tekijä Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, Cassart, Marie

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Unusual Presentation of GM2 Gangliosidosis Mimicking a Brain Stem Tumor in a 3-Year-Old Girl Tekijä Nassogne, Marie-Cécile, Commare, Marie-Christine, Lellouch-Tubiana, Arielle, Emond, Sophie, Zerah, Michel, Caillaud, Catherine, Hertz-Pannier, Lucie, Saudubray, Jean-Marie

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A gene encoding a putative FAD-dependent l-2-hydroxyglutarate dehydrogenase is mutated in l-2-hydroxyglutaric aciduria Tekijä Rzem, Rim, Veiga-da-Cunha, Maria, Noël, Gaëtane, Goffette, Sophie, Nassogne, Marie-Cécile, Tabarki, Brahim, Schöller, Christina, Marquardt, Thorsten, Vikkula, Miikka, Van Schaftingen, Emile

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Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis Tekijä Sturiale, Luisa, Nassogne, Marie-Cécile, Palmigiano, Angelo, Messina, Angela, Speciale, Immacolata, Artuso, Rosangela, Bertino, Gaetano, Revencu, Nicole, Stephénne, Xavier, De Castro, Cristina, Matthijs, Gert, Barone, Rita, Jaeken, Jaak, Garozzo, Domenico

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A 7-Year-Old Child With Headaches and Prolonged Fever Associated With Oral and Nail Lesions Tekijä Martin, Sophie, Balligand, Elise, Peeters, Julie, Nassogne, Marie-Cécile, Mondovits, Bénédicte, Loop, Michèle, de Selys, Ariel, Vanclaire, Jean, Vermylen, Christiane, De Bruyckere, Jean- Jacques, Chatzis, Olga, Puel, Anne, Gilliaux, Olivier, Van Der Linden, Dimitri

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MAN1B1 Deficiency: An Unexpected CDG-II Tekijä 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

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

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder Tekijä Maia, Nuno, Potelle, Sven, Yildirim, Hamide, Duvet, Sandrine, Akula, Shyam K., Schulz, Celine, Wiame, Elsa, Gheldof, Alexander, O’Kane, Katherine, Lai, Abbe, Sermon, Karen, Proisy, Maïa, Loget, Philippe, Attié-Bitach, Tania, Quelin, Chloé, Fortuna, Ana Maria, Soares, Ana Rita, de Brouwer, Arjan P.M., Van Schaftingen, Emile, Nassogne, Marie-Cécile, Walsh, Christopher A., Stouffs, Katrien, Jorge, Paula, Jansen, Anna C., Foulquier, François

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HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients Tekijä Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.

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

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Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy Tekijä Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Tekijä Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia

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

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