1. Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window
- Author
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Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, Bourdeaut, Franck, Genetica, Genetica Oper.Mang. Clinical Genetics, Guerrini-Rousseau, Léa, Masliah-Planchon, Julien, Filser, Mathilde, Tauziède-Espariat, Arnault, Entz-Werle, Natacha, Maugard, Christine M., Hopman, Saskia M.J., Torrejon, Jacob, Gauthier-Villars, Marion, Simaga, Fatoumata, Blauwblomme, Thomas, Beccaria, Kevin, Rouleau, Etienne, Dimaria, Marina, Grill, Jacques, Abbou, Samuel, Claret, Béatrice, Brugières, Laurence, Doz, François, Bouchoucha, Yassine, Faure-Conter, Cécile, Bonadona, Valerie, Mansuy, Ludovic, De Carli, Emilie, Ingster, Olivier, Legrand, Clémentine, Pagnier, Anne, Berthet, Pascaline, Bodet, Damien, Julia, Sophie, Bertozzi, Anne Isabelle, Wilems, Marjolaine, Maurage, Claude Alain, Delattre, Olivier, Ayrault, Olivier, Dufour, Christelle, and Bourdeaut, Franck
- Published
- 2024