Role of a specialized Alzheimer team in pragmatic analysis of loss of autonomy by Auguste, Nicolas, Moutton, Marion, Achour, Emilie, Ribes, Anne, Gonthier, Régis

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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders by Barbosa, Sónia, Greville-Heygate, Stephanie, Bonnet, Maxime, Godwin, Annie, Fagotto-Kaufmann, Christine, Kajava, Andrey V., Laouteouet, Damien, Mawby, Rebecca, Wai, Htoo Aung, Dingemans, Alexander J.M., Hehir-Kwa, Jayne, Willems, Marjorlaine, Capri, Yline, Mehta, Sarju G., Cox, Helen, Goudie, David, Vansenne, Fleur, Turnpenny, Peter, Vincent, Marie, Cogné, Benjamin, Lesca, Gaëtan, Hertecant, Jozef, Rodriguez, Diana, Keren, Boris, Burglen, Lydie, Gérard, Marion, Putoux, Audrey, Cantagrel, Vincent, Siquier-Pernet, Karine, Rio, Marlene, Banka, Siddharth, Sarkar, Ajoy, Steeves, Marcie, Parker, Michael, Clement, Emma, Moutton, Sébastien, Tran Mau-Them, Frédéric, Piton, Amélie, de Vries, Bert B.A., Guille, Matthew, Debant, Anne, Schmidt, Susanne, Baralle, Diana

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation by Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing by Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers by Renault, Anne-Laure, Mebirouk, Noura, Fuhrmann, Laetitia, Bataillon, Guillaume, Cavaciuti, Eve, Le Gal, Dorothée, Girard, Elodie, Popova, Tatiana, La Rosa, Philippe, Beauvallet, Juana, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, d'Enghien, Catherine Dubois, Laugé, Anthony, Chemlali, Walid, Raynal, Virginie, Labbé, Martine, Bièche, Ivan, Baulande, Sylvain, Bay, Jacques-Olivier, Berthet, Pascaline, Caron, Olivier, Buecher, Bruno, Faivre, Laurence, Fresnay, Marc, Gauthier-Villars, Marion, Gesta, Paul, Janin, Nicolas, Lejeune, Sophie, Maugard, Christine, Moutton, Sébastien, Venat-Bouvet, Laurence, Zattara, Hélène, Fricker, Jean-Pierre, Gladieff, Laurence, Coupier, Isabelle, Chenevix-Trench, Georgia, Hall, Janet, Vincent-Salomon, Anne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne

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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations by Garde, Aurore, Cornaton, Jenny, Sorlin, Arthur, Moutton, Sébastien, Nicolas, Claire, Juif, Christine, Geneviève, David, Perrin, Laurence, Khau‐Van‐Kien, Philippe, Smol, Thomas, Vincent‐Delorme, Catherine, Isidor, Bertrand, Cogné, Benjamin, Afenjar, Alexandra, Keren, Boris, Coubes, Christine, Prieur, Fabienne, Toutain, Annick, Trousselet, Yann, Bourgouin, Solène, Gonin‐Olympiade, Coralie, Giraudat, Kim, Piton, Amélie, Gérard, Bénédicte, Odent, Sylvie, Tessier, Fanny, Lemasson, Lola, Heide, Solveig, Gelineau, Anne‐Claire, Sarret, Catherine, Miret, Anne, Schaefer, Elise, Piard, Juliette, Mathevet, Rémi, Boucon, Marion, Bruel, Ange‐Line, Mau‐Them, Frederic Tran, Chevarin, Martin, Vitobello, Antonio, Philippe, Christophe, Thauvin‐Robinet, Christel, Faivre, Laurence

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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype by Grangeon, Lou, Wallon, David, Charbonnier, Camille, Quenez, Olivier, Richard, Anne-Claire, Rousseau, Stéphane, Budowski, Clara, Lebouvier, Thibaud, Corbille, Anne-Gaëlle, Vidailhet, Marie, Méneret, Aurélie, Roze, Emmanuel, Anheim, Mathieu, Tranchant, Christine, Favrole, Pascal, Antoine, Jean-Christophe, Defebvre, Luc, Ayrignac, Xavier, Labauge, Pierre, Pariente, Jérémie, Clanet, Michel, Maltête, David, Rovelet-Lecrux, Anne, Boland, Anne, Deleuze, Jean-François, Frebourg, Thierry, Hannequin, Didier, Campion, Dominique, Nicolas, Gaël

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The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders by Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel

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Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis by Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d'Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cells differentiation by Coolen, Marion, Altin, Nami, Rajamani, Karthyayani, Pereira, Eva, Siquier-Pernet, Karine, Puig Lombardi, Emilia, Moreno, Nadjeda, Barcia, Giulia, Yvert, Marianne, Laquerrière, Annie, Pouliet, Aurore, Nitschké, Patrick, Boddaert, Nathalie, Rausell, Antonio, Razavi, Féréchté, Afenjar, Alexandra, Billette de Villemeur, Thierry, Al-Maawali, Almundher, Al-Thihli, Khalid, Baptista, Julia, Beleza-Meireles, Ana, Garel, Catherine, Legendre, Marine, Gelot, Antoinette, Burglen, Lydie, Moutton, Sébastien, Cantagrel, Vincent

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