Publications by authors named "F Jobard"

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L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
J O Sass, F Jobard, M Topçu, A Mahfoud, E Werlé

J Inherit Metab Dis· December 2008

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A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.
Stephanie Claus, Judith Fischer, Hala Mégarbané, André Mégarbané, Florence Jobard

J Invest Dermatol· June 2008

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L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
G Haliloglu, F Jobard, K K Oguz, B Anlar, N Akalan

Neuropediatrics· April 2008

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Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
Fabienne Lesueur, Bakar Bouadjar, Caroline Lefèvre, Florence Jobard, Stéphanie Audebert

J Invest Dermatol· April 2007

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L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Meral Topçu, Florence Jobard, Sophie Halliez, Turgay Coskun, Cengiz Yalçinkayal

Hum Mol Genet· November 2004

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