Phenotype variability in thirteen 16p11.2 deletion patients

by Diana Rodà, Elisabeth Gabau, Neus Baena, Miriam Guitart
Published 2018-07-01

Variabilidad fenotípica en 13 casos de deleción 16p11.2

by Diana Rodà, Elisabeth Gabau, Neus Baena, Miriam Guitart
Published 2018-07-01

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

by Irene Berges-Raso, Olga Giménez-Palop, Elisabeth Gabau, Ismael Capel, Assumpta Caixàs, Mercedes Rigla
Published 2017-09-01

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome

by Cinthia Aguilera, Stefan Hümmer, Stefan Hümmer, Marc Masanas, Elisabeth Gabau, Miriam Guitart, A. Arockia Jeyaprakash, Miguel F. Segura, Anna Santamaria, Anna Ruiz
Published 2021-05-01

Lack of response to disgusting food in the hypothalamus and related structures in Prader Willi syndrome

by Laura Blanco-Hinojo, Jesus Pujol, Susanna Esteba-Castillo, Gerard Martínez-Vilavella, Olga Giménez-Palop, Elisabeth Gabau, Laia Casamitjana, Joan Deus, Ramón Novell, Assumpta Caixàs
Published 2019-01-01

Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

by Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
Published 2017-11-01

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

by Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Itxaso Martí, Miriam Guitart, Elisabeth Gabau, Fernando Andrade, Blanca Gener, María-Isabel Tejada
Published 2020-01-01

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

by Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs
Published 2016-01-01