Search Results - Imbard, Apolline

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation by 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

Get full text Get full text Get full text

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency by 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

Get full text Get full text Get full text

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation by 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

Get full text Get full text Get full text

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning by 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

Get full text Get full text Get full text

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease by 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

Get full text Get full text Get full text

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability by 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

Get full text Get full text Get full text

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency by 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

Get full text Get full text Get full text