IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

por Schorderet, Daniel F., Iouranova, Alexandra, Favez, Tatiana, Tiab, Leila, Escher, Pascal
Publicado 2013

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

por Tiab, Leila, Largueche, Leila, Chouchane, Ibtissem, Derouiche, Kaouthar, Munier, Francis L., El Matri, Leila, Schorderet, Daniel F.
Publicado 2013

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

por Vaclavik, Veronika, Tiab, Leila, Sun, Young Joo, Mahajan, Vinit B., Moulin, Alexandre, Allaman-Pillet, Nathalie, Munier, Francis L., Schorderet, Daniel F.
Publicado 2022