Zoekresultaten - Petit, François

Exercise efficiency impairment in metabolic myopathies door Noury, Jean-Baptiste, Zagnoli, Fabien, Petit, François, Marcorelles, Pascale, Rannou, Fabrice

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Composite Tissue Allotransplantation and Reconstructive Surgery: First Clinical Applications door Petit, François, Minns, Alicia B., Dubernard, Jean-Michel, Hettiaratchy, Shehan, Lee, W. P. Andrew

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The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies door Noury, Jean-Baptiste, Zagnoli, Fabien, Petit, François, Le Maréchal, Cédric, Marcorelles, Pascale, Rannou, Fabrice

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Physiological partial aldosterone resistance in human newborns door Martinerie, Laetitia, Pussard, Eric, Foix-L'hélias, Laurence, Petit, François, Cosson, Claudine, Boileau, Pascal, Lombès, Marc

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A case of germline mosaicism for a 7q32.1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations door Chalas, Celine, Receveur, Aline, Frydman, Nelly, Massin, Nathalie, Tachdjian, Gerard, Drouineaud, Veronique, Benachi, Alexandra, Patrat, Catherine, Petit, Francois Michael

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Glucose-6-phosphatase deficiency door Froissart, Roseline, Piraud, Monique, Boudjemline, Alix Mollet, Vianey-Saban, Christine, Petit, François, Hubert-Buron, Aurélie, Eberschweiler, Pascale Trioche, Gajdos, Vincent, Labrune, Philippe

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Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease door Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie

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A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome door Petit, François M, Hébert, Marylise, Picone, Olivier, Brisset, Sophie, Maurin, Marie-Laure, Parisot, Frédéric, Capel, Liliane, Benattar, Clarisse, Sénat, Marie-Victoire, Tachdjian, Gérard, Labrune, Philippe

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Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism door Tosca, Lucie, Brisset, Sophie, Petit, François M, Lecerf, Laure, Rousseau, Ghislaine, Bas, Cécile, Laroudie, Mireille, Maurin, Marie-Laure, Tapia, Sylvie, Picone, Olivier, Prevot, Sophie, Goossens, Michel, Labrune, Philippe, Tachdjian, Gérard

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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome door Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.

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Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohort door Bérat, Claire-Marine, Roda, Célina, Brassier, Anais, Bouchereau, Juliette, Wicker, Camille, Servais, Aude, Dubois, Sandrine, Assoun, Murielle, Belloche, Claire, Barbier, Valérie, Leboeuf, Virginie, Petit, François M., Gaignard, Pauline, Lebigot, Elise, Bérat, Pierre-Jean, Pontoizeau, Clément, Touati, Guy, Talbotec, Cécile, Campeotto, Florence, Ottolenghi, Chris, Arnoux, Jean-Baptiste, de Lonlay pascale, Pascale

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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency door Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Malfatti, Edoardo, Romero, Norma, Carlier, Robert Yves, Eymard, Bruno, Labrune, Philippe, Duno, Morten, Krag, Thomas, Cerino, Mathieu, Bartoli, Marc, Bonne, Gisèle, Vissing, John, Laforet, Pascal, Petit, François M.

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A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing door Krahn, Martin, Biancalana, Valérie, Cerino, Mathieu, Perrin, Aurélien, Michel-Calemard, Laurence, Nectoux, Juliette, Leturcq, France, Bouchet-Séraphin, Céline, Acquaviva-Bourdain, Cécile, Campana-Salort, Emmanuelle, Molon, Annamaria, Urtizberea, Jon Andoni, Audic, Frédérique, Chabrol, Brigitte, Pouget, Jean, Froissart, Roseline, Melki, Judith, Rendu, John, Petit, François, Métay, Corinne, Seta, Nathalie, Sternberg, Damien, Fauré, Julien, Cossée, Mireille

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Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment door Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, Malfatti, Edoardo

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Phase I study of vinblastine in combination with nilotinib in children, adolescents, and young adults with refractory or recurrent low-grade glioma door Vairy, Stephanie, Le Teuff, Gwénaël, Bautista, Francisco, De Carli, Emilie, Bertozzi, Anne-Isabelle, Pagnier, Anne, Fouyssac, Fanny, Nysom, Karsten, Aerts, Isabelle, Leblond, Pierre, Millot, Frederic, Berger, Claire, Canale, Sandra, Paci, Angelo, Poinsignon, Vianney, Chevance, Aurelie, Ezzalfani, Monia, Vidaud, Dominique, Di Giannatale, Angela, Hladun-Alvaro, Raquel, Petit, Francois M, Vassal, Gilles, Geoerger, Birgit, Le Deley, Marie-Cécile, Grill, Jacques

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Sex differences in mandibular repositioning device therapy effectiveness in patients with obstructive sleep apnea syndrome door Vecchierini, Marie-Françoise, Attali, Valérie, Collet, Jean-Marc, d’Ortho, Marie-Pia, Goutorbe, Frederic, Kerbrat, Jean-Baptiste, Leger, Damien, Lavergne, Florent, Monaca, Christelle, Monteyrol, Pierre-Jean, Morin, Laurent, Mullens, Eric, Pigearias, Bernard, Martin, Francis, Khemliche, Hauria, Lerousseau, Lionel, Meurice, Jean-Claude, Abedipour, Darius, Allard-Redon, Aurélie, Aranda, Alexandre, Attali, Valérie, Bavozet, Frédérique, Becu, Martine, Beruben, Wally, Bessard, Jerome, Bonafe, Isabelle, Boukhana, Mohammed, Chabrol, Bruno, Chatte, Gérard, Lebret, Chauvel, Collet, Jean-Marc, Coste, Olivier, Dumont, Nathalie, Durand-Amat, Sophie, D’ortho, Marie-Pia, Elbaum, Jean Marc, De Santerre, Olivier Gallet, Goutorbes, Frédéric, Grandjean, Thierry, Guyot, Wilma, Hammer, Doniphan, Havasi, Carmen, Huet, Pascal, Kerbrat, Jean Baptiste, Khemliche, Hauria, Koltes, Christian, Leger, Damien, Lacassagne, Laurent, Laur, Xavier, Lerousseau, Lionel, Liard, Olivier, Loisel, Christophe, Longuet, Matthieu, Mallart, Anne, Martin, Francis, Merle Beral, Frédéric, Meurice, Jean Claude, Mokhtari, Zoubida, Monaca, Christelle, Monteyrol, Pierre Jean, Muir, Jean-François, Mullens, Eric, Muller, Dominique, Paoli, Charles, Petit, François Xavier, Pigearias, Bernard, Pradines, Marc, Prigent, Arnauld, Putterman, Gil, Rey, Marc, Samama, Mickael, Tamisier, Renaud, Tiberge, Michel, Tison, Cyrille, Tordjman, Fabienne, Triolet, Bernard, Vacher, Christian, Vecchierini, Marie-Françoise, Verain, Alain

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