檢索結果 - Nguyen, Lam Son

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

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

獲取全文 獲取全文 獲取全文

Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance 由 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

獲取全文 獲取全文 獲取全文

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth 由 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.

獲取全文 獲取全文 獲取全文

Rare copy number variation in cerebral palsy 由 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

獲取全文 獲取全文 獲取全文

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect 由 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

獲取全文 獲取全文 獲取全文

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity 由 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.

獲取全文 獲取全文 獲取全文