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Stéphanie Audebert
Stéphanie Audebert
Genetics
Biology
Molecular biology
Mutation
Haplotype
4
Papers
319
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Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13
2007
Journal of Investigative Dermatology
Fabienne Lesueur
Bakar Bouadjar
Caroline Lefèvre
Florence Jobard
Stéphanie Audebert
Hakima Lakhdar
Ludovic Martin
Gianluca Tadini
Ayşen Karaduman
Serap Emre
Safa Saker
Mark Lathrop
Judith Fischer
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Citations (38)
Novel Mutations in the Gene Encoding Secreted Lymphocyte Antigen-6/Urokinase-type Plasminogen Activator Receptor-related Protein-1 (SLURP-1) and Description of Five Ancestral Haplotypes in Patients with Mal de Meleda
2003
Journal of Investigative Dermatology
Slaheddine Marrakchi
Abdelmadjid Zahaf
H. Turki
Stéphanie Audebert
Bakar Bouadjar
Christina Has
Caroline Lefèvre
Colin S. Munro
Susan Cure
Florence Jobard
Susanne Morlot
Daniel Hohl
Jean-François Prud'homme
Judith Fischer
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Citations (32)
Novel mutations in the gene encoding secreted lymphocyte antigen- plasminogen activator receptor-related protein-1 (SLURP-1) and five ancestral haplotypes in patients with Mal de Meleda
2003
Journal of Investigative Dermatology
Slaheddine Marrakchi
Stéphanie Audebert
Bakar Bouadjar
Christina Has
Caroline Lefèvre
Colin S. Munro
Susan Cure
Florence Jobard
Susanne Morlot
Daniel Hohl
Jean-François Prud'homme
A. Zahaf
H. Turki
Judith Fischer
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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
2003
Human Molecular Genetics
Caroline Lefèvre
Stéphanie Audebert
Florence Jobard
Bakar Bouadjar
Hakima Lakhdar
Omar Boughdene-Stambouli
Claudine Blanchet-Bardon
Roland Heilig
Mario Foglio
Jean Weissenbach
Mark Lathrop
Jean-François Prud'homme
Judith Fischer
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Citations (249)
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