Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment von Cascajo-Almenara, Marivi V., Juliá-Palacios, Natalia, Urreizti, Roser, Sánchez-Cuesta, Ana, Fernández-Ayala, Daniel M., García-Díaz, Elena, Oliva, Clara, O´Callaghan, Maria del Mar, Paredes-Fuentes, Abraham J., Moreno-Lozano, Pedro J., Muchart, Jordi, Nascimento, Andres, Ortez, Carlos I., Natera-de Benito, Daniel, Pineda, Mercedes, Rivera, Noelia, Fortuna, Tyler R., Rajan, Deepa S., Navas, Plácido, Salviati, Leonardo, Palau, Francesc, Yubero, Delia, García-Cazorla, Angels, Pandey, Udai Bhan, Santos-Ocaña, Carlos, Artuch, Rafael

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Mutations of GEMIN5 are associated with coenzyme Q 10 deficiency: long-term follow-up after treatment von Cascajo-Almenara, Marivi V, Juliá-Palacios, Natalia, Urreizti, Roser, Sánchez-Cuesta, Ana, Fernández-Ayala, Daniel M, García-Díaz, Elena, Oliva, Clara, O Callaghan, Maria Del Mar, Paredes-Fuentes, Abraham J, Moreno-Lozano, Pedro J, Muchart, Jordi, Nascimento, Andres, Ortez, Carlos I, Natera-de Benito, Daniel, Pineda, Mercedes, Rivera, Noelia, Fortuna, Tyler R, Rajan, Deepa S, Navas, Plácido, Salviati, Leonardo, Palau, Francesc, Yubero, Delia, García-Cazorla, Angels, Pandey, Udai Bhan, Santos-Ocaña, Carlos, Artuch, Rafael

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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals von Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Del Campo, Miguel, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C, Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

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