Showing 1 - 9 results of 9 for search 'Jean‐Michel Rozet', query time: 0.04s
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<i>MCAT</i> Mutations Cause Nuclear LHON-like Optic Neuropathy by Sylvie Gerber, Christophe Orssaud, Josseline Kaplan, Catrine Johansson, Jean-Michel Rozet
Published 2021-04-01
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Congenital Microcoria: Clinical Features and Molecular Genetics by Clémentine Angée, Brigitte Nedelec, Elisa Erjavec, Jean-Michel Rozet, Lucas Fares Taie
Published 2021-04-01
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Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex Microphthalmia by Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing
Published 2024-02-01
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AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation by Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Published 2012-01-01
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PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model by Jennifer Rakotomamonjy, Lauren Rylaarsdam, Lucas Fares-Taie, Sean McDermott, Devin Davies, George Yang, Fikayo Fagbemi, Maya Epstein, Martín Fairbanks-Santana, Jean-Michel Rozet, Alicia Guemez-Gamboa
Published 2023-08-01
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Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy by Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Published 2023-08-01
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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic <i>RPGRIP1</i> Pathologic Variant in the French Leber Congenital Amaurosis Cohort by Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot-Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean-Michel Rozet
Published 2021-02-01
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rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration. by Jennyfer Zerbib, Johanna M Seddon, Florence Richard, Robyn Reynolds, Nicolas Leveziel, Pascale Benlian, Patrick Borel, Josué Feingold, Arnold Munnich, Gisèle Soubrane, Josseline Kaplan, Jean-Michel Rozet, Eric H Souied
Published 2009-10-01
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