Risultati della ricerca - Nguyen, Lam Son

Nonsense-mediated mRNA decay: inter-individual variability and human disease di Nguyen, Lam Son, Wilkinson, Miles, Gecz, Jozef

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Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits di Fregeac, Julien, Moriceau, Stéphanie, Poli, Antoine, Nguyen, Lam Son, Oury, Franck, Colleaux, Laurence

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Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders di Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Cagnard, Nicolas, Iyer, Anand, Anink, Jasper, Aronica, Eleonora, Alibeu, Olivier, Nitschke, Patrick, Colleaux, Laurence

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Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance di Egloff, Matthieu, Nguyen, Lam-Son, Siquier-Pernet, Karine, Cormier-Daire, Valérie, Baujat, Geneviève, Attié-Bitach, Tania, Bole-Feysot, Christine, Nitschke, Patrick, Vekemans, Michel, Colleaux, Laurence, Malan, Valérie

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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth di Homan, Claire C., Kumar, Raman, Nguyen, Lam Son, Haan, Eric, Raymond, F. Lucy, Abidi, Fatima, Raynaud, Martine, Schwartz, Charles E., Wood, Stephen A., Gecz, Jozef, Jolly, Lachlan A.

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Rare copy number variation in cerebral palsy di McMichael, Gai, Girirajan, Santhosh, Moreno-De-Luca, Andres, Gecz, Jozef, Shard, Chloe, Nguyen, Lam Son, Nicholl, Jillian, Gibson, Catherine, Haan, Eric, Eichler, Evan, Martin, Christa Lese, MacLennan, Alastair

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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect di Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Foulquier, François, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent

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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity di Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.

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