Visualitza VHIR - Articles científics per autor "Macaya Ruíz, Alfons"
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Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy
Marcé Grau, Anna; Elorza‐Vidal, Xabier; Pérez‐Rius, Carla; Ruiz‐Nel·lo, Anna; Sala Coromina, Julia; Gabau, Elisabeth; Macaya Ruíz, Alfons (Wiley, 2021-10) -
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
Urbizu, Aintzane; Garrett, Melanie E.; Soldano, Karen; Drechsel, Oliver; Loth, Dorothy; Marcé Grau, Anna; Poca Pastor, Ma Antonia; Macaya Ruíz, Alfons; Mestres Soler, Olga (Public Library Science, 2021-05-11) -
Reduced hippocampal subfield volumes and memory performance in preterm children with and without germinal matrix-intraventricular hemorrhage
Fernández de Gamarra‑Oca, Lexuri; Zubiaurre‑Elorza, Leire; Junqué, Carme; Solana, Elisabeth; Soria‑Pastor, Sara; Vázquez Méndez, Josefa Élida; Macaya Ruíz, Alfons; Poca Pastor, Ma Antonia; Delgado Alvarez, Ignacio (Nature Research, 2021-01-28) -
The European Reference Network for Rare Neurological Diseases
Reinhard, Carola; Bachoud-Lévi, Anne-Catherine; Bäumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke; Macaya Ruíz, Alfons; Perez Dueñas, Belen (Frontiers Media, 2021-01) -
The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders
Gorman, Kathleen; Marcé Grau, Anna; Ortigoza Escobar, Juan Dario; Macaya Ruíz, Alfons; Danti, Federica Rachele; Perez Dueñas, Belen (Wiley, 2022-11)