Resultats de la cerca - Hélène Tubeuf

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  1. 1
    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements per Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frébourg, Pascaline Gaildrat, Alexandra Martins

    Publicat 2020
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  2. 2
    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons per Brian Harding, Amanda Moccia, Séverine Drunat, Omar Soukarieh, Hélène Tubeuf, Lyn S. Chitty, Alain Verloès, Pierre Gressèns, Vincent El Ghouzzi, Sylvie Joriot, Ferdinando Di Cunto, Alexandra Martins, Sandrine Passemard, Stephanie Bielas

    Publicat 2016
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  3. 3
    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

    Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants per Raphaël Leman, Hélène Tubeuf, Sabine Raad, Isabelle Tournier, Céline Derambure, Raphaël Lanos, Pascaline Gaildrat, G Castelain, Julie Hauchard, Audrey Killian, Stéphanie Baert‐Desurmont, Angélina Legros, Nicolas Goardon, Céline Quesnelle, Agathe Ricou, Laurent Castéra, Dominique Vaur, Gérald Le Gac, Chandran Ka, Yann Fichou, Françoise Bonnet‐Dorion, Nicolas Sévenet, Marine Guillaud-Bataille, Nadia Boutry‐Kryza, Inès Schultz, Virginie Caux‐Moncoutier, Maria Rossing, Logan C. Walker, Amanda B. Spurdle, Claude Houdayer, Alexandra Martins, Sophie Krieger

    Publicat 2020
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  4. 4
    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America

    A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America per Bernard Rossi, Edenir Inêz Palmero, Francisco López-Köstner, Carlos Sarroca, Carlos Vaccaro, Florencia Spirandelli, Patrícia Ashton‐Prolla, Yenni Rodríguez, Henrique de Campos Reis Galvão, Rui Manuel Reis, André Escremim de Paula, Luís Gustavo Capochin Romagnolo, Karin Álvarez, Adriana Della Valle, Florencia Neffa, Pablo Kalfayan, Enrique Spirandelli, Sergio Chialina, Melva Gutiérrez‐Angulo, María del Carmen Castro‐Mujica, Julio Sanchez de Monte, Richard Quispe, Sabrina Daniela da Silva, Norma Rossi, Claudia Barletta‐Carrillo, Susana Revollo, Ximena Taborga, L. Lena Morillas, Hélène Tubeuf, Érika Maria Monteiro Santos, Tamara Alejandra Piñero, Constantino Dominguez‐Barrera, Patrik Wernhoff, Alexandra Martins, Eivind Hovig, Pål Møller, Mev Dominguez–Valentin

    Publicat 2017
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