Showing 1 - 4 results of 4 for search 'Julie Plaisancie', query time: 0.03s Refine Results
  1. 1
    Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia

    Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia by Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton

    Published 2023-01-01
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  2. 2
    Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex Microphthalmia

    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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  3. 3
    A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus

    A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus... by Bertrand Chesneau, Aurélie Plancke, Guillaume Rolland, Bertrand Marcheix, Yves Dulac, Thomas Edouard, Julie Plaisancié, Marion Aubert‐Mucca, Sophie Julia, Maud Langeois, Thierry Lavabre‐Bertrand, Philippe Khau Van Kien

    Published 2021-11-01
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  4. 4
    Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

    Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature by Bertrand Chesneau, Thomas Edouard, Yves Dulac, Hélène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisancié

    Published 2020-05-01
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