Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder von Cuscó, Ivon, Medrano, Andrés, Gener, Blanca, Vilardell, Mireia, Gallastegui, Fátima, Villa, Olaya, González, Eva, Rodríguez-Santiago, Benjamín, Vilella, Elisabet, Del Campo, Miguel, Pérez-Jurado, Luis A.

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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study von Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, HG, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A

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Genetic identification of Spanish civil war victims. The state of the art in Catalonia (Northeastern Spain) von Palomo-Díez, S., Gomes, C., López-Parra, A.M., Baeza-Richer, C., Cuscó, I., Raffone, C., García-Arumí, E., Vinueza-Espinosa, D.C., Santos, C., Montes, N., Rasal, R., Escala, O., Cuellar, J., Subirá, E., Casals, F., Malgosa, A., Tizzano, E., Tartera, E., Domenech, G., Arroyo-Pardo, E.

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Hernia hiatal gigante: presentación de un caso clínico von Cuevas Cisneros, Jimy Williams, Huamán Sayago, Stefanny Rocío, Mendoza Ccorimanya, Patricia Marisol, Mosqueira Oporto, Estefany, Incarroca Quispe, Qori Urpi, Jordán Saldaña, Dayant Hanna Andrea, Laurel Montesinos, Fernando, Lezama Quispe, Chaska, Virto Farfan, Carlos Hesed

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Generation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering Williams-Beuren syndrome (7q11.23 deletion) von Kuebler, B., Aran, B., Flores, R., Pérez-Jurado, L.A., Veiga, A., Corominas, R., Cuscó, I.

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Derivation of induced pluripotent stem cells (iPSCs) by retroviral transduction of skin fibroblasts from four patients suffering 7q11.23 microduplication syndrome von Kuebler, B., Aran, B., Flores, R., Pérez-Jurado, L.A., Veiga, A., Cuscó, I., Corominas, R.

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SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings von CUSCO, I, BARCELO, M. J, ROJAS-GARCIA, R, ILLA, I, GAMEZ, J, CERVERA, C, POU, A, IZQUIERDO, G, BAIGET, M, TIZZANO, E. F

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Evaluation of Properties of Chenopodium pallidicaule (Canihua) Oil for Possible Use in Cosmetic Formulations von Carla del Carpio-Jimenez, Ruth Sara Molleda-Gutierrez, Profeta Tapia-Delgado

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Detection of novel mutations in the SMN Tudor domain in type I SMA patients von CUSCO, I, BARCELO, M. Jesus, DEL RIO, E, BAIGET, M, TIZZANO, E. F

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Effect of a Sedation and Ventilator Liberation Protocol vs Usual Care on Duration of Invasive Mechanical Ventilation in Pediatric Intensive Care Units: A Randomized Clinical Trial von Blackwood, Bronagh, Tume, Lyvonne N, Morris, Kevin P, Clarke, Mike, McDowell, Clíona, Hemming, Karla, Peters, Mark J, McIlmurray, Lisa, Jordan, Joanne, Agus, Ashley, Murray, Margaret, Parslow, Roger, Walsh, Timothy S, Macrae, Duncan, Easter, Christina, Feltbower, Richard G, McAuley, Daniel F

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Aproximación bibliométrica de las tendencias en enseñanza–aprendizaje indexadas en Scopus von Ramos Meza, Carlos Samuel

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