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Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms by Froissart Roseline, Ferchichi Salima, Bibi Amina, Kassab Asma, Khedhiri Souhir, Chkioua Latifa, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi
Published 2011-04-01
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Glucose-6-phosphatase deficiency by Labrune Philippe, Gajdos Vincent, Eberschweiler Pascale, Hubert-Buron Aurélie, Petit François, Vianey-Saban Christine, Boudjemline Alix, Piraud Monique, Froissart Roseline
Published 2011-05-01
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Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients by Chahed Henda, Froissart Roseline, Tcheng Rémy, Turkia Hadhami, Khedhiri Souhir, Chkioua Latifa, Ferchichi Salima, Ben Dridi Marie, Vianey-Saban Christine, Laradi Sandrine, Miled Abdelhedi
Published 2011-06-01
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A novel mutation of the <it>ACADM </it>gene (c.145C>G) associated with the common c.985A>G mutation on the other <it>ACADM </it>allele causes mild MCAD deficiency: a case report by Briand Gilbert, Martin-Ponthieu Annie, Mention-Mulliez Karine, Dobbelaere Dries, Rabier Daniel, Napuri-Gouel Silvia, Brivet Michèle, Gregersen Niels, Andresen Brage S, Fontaine Monique, Dessein Anne-Frédérique, Millington David S, Vianey-Saban Christine, Wanders Ronald JA, Vamecq Joseph
Published 2010-10-01
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Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms by Cheillan David, Curt Marie Joncquel-Chevalier, Briand Gilbert, Salomons Gajja S, Mention-Mulliez Karine, Dobbelaere Dries, Cuisset Jean-Marie, Lion-François Laurence, Portes Vincent Des, Chabli Allel, Valayannopoulos Vassili, Benoist Jean-François, Pinard Jean-Marc, Simard Gilles, Douay Olivier, Deiva Kumaran, Afenjar Alexandra, Héron Delphine, Rivier François, Chabrol Brigitte, Prieur Fabienne, Cartault François, Pitelet Gaëlle, Goldenberg Alice, Bekri Soumeya, Gerard Marion, Delorme Richard, Tardieu Marc, Porchet Nicole, Vianey-Saban Christine, Vamecq Joseph
Published 2012-12-01
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