Showing 1 - 4 results of 4 for search 'Sabine Defoort-Dhellemmes', query time: 0.02s
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Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort by Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques
Published 2023-03-01
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<i>CRB1</i>-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor <i>CRB1</i> Isoforms by Kévin Mairot, Vasily Smirnov, Béatrice Bocquet, Gilles Labesse, Carl Arndt, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, Dalil Hamroun, Danièle Denis, Marie-Christine Picot, Thierry David, Olivier Grunewald, Mako Pégart, Hélèna Huguet, Anne-Françoise Roux, Vasiliki Kalatzis, Claire-Marie Dhaenens, Isabelle Meunier
Published 2021-11-01
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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants by Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
Published 2022-04-01
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Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy by Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Published 2021-06-01
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