Browsing by Author "Aguilera, Cinthia"
Now showing items 1-2 of 2
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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)