Visualitza VHIR - Articles científics per autor "Gabau, Elisabeth"
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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) -
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum
Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafre, Ariadna; Brun-Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Padilla Sirera, Natalia; De la Cruz Montserrat, Fco. Xavier (Public Library of Science, 2021-10-15) -
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome
Aguilera, Cinthia; Hümmer, Stefan; Masanas Jimenez, Marc; Gabau, Elisabeth; Guitart, Miriam; Jeyaprakash, A. Arockia; Segura Ginard, Miguel; Santamaria Margalef, Anna; Ruiz, Anna (Frontiers Media, 2021-05-26)