Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report

per Mohamed, Sarar, Osman, Abdaldafae, Al Jurayyan, Nasir A, Al Nemri, Abdulrahman, Salih, Mustafa AM
Publicat 2014

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of <it>LAMA2</it>

per Di Blasi Claudia, Bellafiore Emanuela, Salih Mustafa AM, Manzini M Chiara, Moore Steven A, Seidahmed Mohammed Z, Mukhtar Maowia M, Karrar Zein A, Walsh Christopher A, Campbell Kevin P, Mantegazza Renato, Morandi Lucia, Mora Marina
Publicat 2011-12-01

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

per Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa AM, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Publicat 2011

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

per Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Publicat 2012

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

per Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni
Publicat 2012