Kết quả tìm kiếm - Lopez-Martin, Estrella

SpainUDP: The Spanish Undiagnosed Rare Diseases Program Bằng López-Martín, Estrella, Martínez-Delgado, Beatriz, Bermejo-Sánchez, Eva, Alonso, Javier, Posada, Manuel

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Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum Bằng Urreizti, Roser, Lopez-Martin, Estrella, Martinez-Monseny, Antonio, Pujadas, Montse, Castilla-Vallmanya, Laura, Pérez-Jurado, Luis Alberto, Serrano, Mercedes, Natera-de Benito, Daniel, Martínez-Delgado, Beatriz, Posada-de-la-Paz, Manuel, Alonso, Javier, Marin-Reina, Purificación, O’Callaghan, Mar, Grinberg, Daniel, Bermejo-Sánchez, Eva, Balcells, Susanna

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The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases Bằng Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Corvó, Alberto, Fernández‐Callejo, Marcos, Garcia‐Linares, Carles, Hernandez‐Ferrer, Carles, Luengo, Cristina, Martínez, Inés, Papakonstantinou, Anastasios, Picó‐Amador, Daniel, Protasio, Joan, Thompson, Rachel, Tonda, Raul, Bayés, Mònica, Bullich, Gemma, Camps‐Puchadas, Jordi, Paramonov, Ida, Trotta, Jean‐Rémi, Alonso, Angel, Attimonelli, Marcella, Béroud, Christophe, Bros‐Facer, Virginie, Buske, Orion J., Cañada‐Pallarés, Andrés, Fernández, José M., Hansson, Mats G., Horvath, Rita, Jacobsen, Julius O.B., Kaliyaperumal, Rajaram, Lair‐Préterre, Séverine, Licata, Luana, Lopes, Pedro, López‐Martín, Estrella, Mascalzoni, Deborah, Monaco, Lucia, Pérez‐Jurado, Luis A., Posada de la Paz, Manuel, Rambla, Jordi, Rath, Ana, Riess, Olaf, Robinson, Peter N., Salgado, David, Smedley, Damian, Spalding, Dylan, 't Hoen, Peter A. C., Töpf, Ana, Zaharieva, Irina, Graessner, Holm, Gut, Ivo G., Lochmüller, Hanns, Beltran, Sergi

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