Resultats de la cerca - Imbard, Apolline

Neural Tube Defects, Folic Acid and Methylation per Imbard, Apolline, Benoist, Jean-François, Blom, Henk J.

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Liver and brain differential expression of one-carbon metabolism genes during ontogenesis per Imbard, Apolline, Schwendimann, Leslie, Lebon, Sophie, Gressens, Pierre, Blom, Henk J., Benoist, Jean-François

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Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening per Bower, Alexandra, Imbard, Apolline, Benoist, Jean-François, Pichard, Samia, Rigal, Odile, Baud, Olivier, Schiff, Manuel

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New spastic paraplegia phenotype associated to mutation of NFU1 per Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile

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Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation per Desprairies, Camille, Imbard, Apolline, Koehl, Bérengère, Lorrot, Mathie, Gaschignard, Jean, Sommet, Julie, Pichard, Samia, Holvoet, Laurent, Faye, Albert, Benkerrou, Malika, Benoist, Jean-François, Schiff, Manuel

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Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency per Esse, Ruben, Imbard, Apolline, Florindo, Cristina, Gupta, Sapna, Quinlivan, Eoin P., Davids, Mariska, Teerlink, Tom, Tavares de Almeida, Isabel, Kruger, Warren D., Blom, Henk J., Castro, Rita

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FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation per Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale

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TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning per de Calbiac, Hortense, Montealegre, Sebastian, Straube, Marjolène, Renault, Solène, Debruge, Hugo, Chentout, Loïc, Ciura, Sorana, Imbard, Apolline, Guillou, Edouard Le, Marian, Anca, Goudin, Nicolas, Caccavelli, Laure, Fabrega, Sylvie, Hubas, Arnaud, van Endert, Peter, Dupont, Nicolas, Diana, Julien, Kabashi, Edor, de Lonlay, Pascale

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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease per Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel

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Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability per Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency per Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger

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