Rezultaty - Marion Lenglet

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  1. 1
    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

    Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectode... od Thomas Besnard, Natacha Sloboda, Alice Goldenberg, Sébastien Küry, Benjamin Cogné, Flora Bréhéret, Eva Trochu, Solène Conrad, Marie Vincent, Wallid Deb, X. Balguérie, S. Barbarot, Geneviève Baujat, Tawfeg Ben‐Omran, A.‐C. Bursztejn, Virginie Carmignac, Alexandre Datta, A. Delignières, Laurence Faivre, Betty Gardie, Jean‐Louis Guéant, Paul Kuentz, Marion Lenglet, Marie‐Cécile Nassogne, V. Ramaekers, Rhonda E. Schnur, Yue Si, Erin Torti, Julien Thévenon, P. Vabres, Lionel Van Maldergem, Dorothea Wand, Arnaud Wiedemann, Bertrand Cariou, Richard Redon, Antonin Lamazière, Stéphane Bézieau, François Feillet, Bertrand Isidor

    Wydane 2019
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  2. 2
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease od Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    Wydane 2018
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