نتائج البحث - Imbard, Apolline

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل