نتائج البحث - Luton, Marie‐Pierre

Multiparametric characterization of white matter alterations in early stage Huntington disease حسب Adanyeguh, Isaac M., Branzoli, Francesca, Delorme, Cécile, Méneret, Aurélie, Monin, Marie-Lorraine, Luton, Marie-Pierre, Durr, Alexandra, Sabidussi, Emanoel, Mochel, Fanny

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

Unusual Phenotypic Features in a Patient with a Novel Splice Mutation in the GHRHR Gene حسب Hilal, Latifa, Hajaji, Yassir, Vie-Luton, Marie-Pierre, Ajaltouni, Zeina, Benazzouz, Bouchra, Chana, Maha, Chraïbi, Adelmajid, Kadiri, Abdelkrim, Amselem, Serge, Sobrier, Marie-Laure

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

Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect حسب Hainque, Elodie, Gras, Domitille, Meneret, Aurélie, Atencio, Mariana, Luton, Marie-Pierre, Barbier, Magali, Doulazmi, Mohamed, Habarou, Florence, Ottolenghi, Chris, Roze, Emmanuel, Mochel, Fanny

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

Multiparametric in vivo analyses of the brain and spine identify structural and metabolic biomarkers in men with adrenomyeloneuropathy حسب Adanyeguh, Isaac M., Lou, Xiaofang, McGovern, Eavan, Luton, Marie-Pierre, Barbier, Magali, Yazbeck, Elise, Valabregue, Romain, Deelchand, Dinesh, Henry, Pierre-Gilles, Mochel, Fanny

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

Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature حسب Pantel, Jacques, Legendre, Marie, Cabrol, Sylvie, Hilal, Latifa, Hajaji, Yassir, Morisset, Séverine, Nivot, Sylvie, Vie-Luton, Marie-Pierre, Grouselle, Dominique, de Kerdanet, Marc, Kadiri, Abdelkrim, Epelbaum, Jacques, Le Bouc, Yves, Amselem, Serge

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

A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome حسب Gras, Domitille, Cousin, Christelle, Kappeler, Caroline, Fung, Cheuk‐Wing, Auvin, Stéphane, Essid, Nouha, Chung, Brian Hy, Da Costa, Lydie, Hainque, Elodie, Luton, Marie‐Pierre, Petit, Vincent, Vuillaumier‐Barrot, Sandrine, Boespflug‐Tanguy, Odile, Roze, Emmanuel, Mochel, Fanny

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

No effect of triheptanoin on exercise performance in McArdle disease حسب Madsen, Karen L., Laforêt, Pascal, Buch, Astrid E., Stemmerik, Mads G., Ottolenghi, Chris, Hatem, Stéphane N., Raaschou‐Pedersen, Daniel T., Poulsen, Nanna S., Atencio, Maria, Luton, Marie‐Pierre, Ceccaldi, Alexandre, Haller, Ronald G., Quinlivan, Ros, Mochel, Fanny, Vissing, John

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

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes حسب Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.

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