Genetic Testing in Hereditary Breast and Ovarian Cancer Using Massive Parallel Sequencing

por Ruiz, Anna, Llort, Gemma, Yagüe, Carmen, Baena, Neus, Viñas, Marina, Torra, Montse, Brunet, Anna, Seguí, Miquel A., Saigí, Eugeni, Guitart, Miriam
Publicado 2014

A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

por Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Baena, Neus, San, Joan, Ruiz, Anna, Coll, Maria Dolors, Novell, Ramon, Guitart, Miriam
Publicado 2014

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort

por Mazarico-Altisent, Isabel, Capel, Ismael, Baena, Neus, Bella-Cueto, Maria Rosa, Barcons, Santi, Guirao, Xavier, Pareja, Rocío, Muntean, Andreea, Arsentales, Valeria, Caixàs, Assumpta, Rigla, Mercedes
Publicado 2023

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

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

Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

por Aguilera, Cinthia, Gabau, Elisabeth, Laurie, Steve, Baena, Neus, Derdak, Sophia, Capdevila, Núria, Ramirez, Ariadna, Delgadillo, Veronica, García‐Catalan, Maria Jesus, Brun, Carme, Guitart, Miriam, Ruiz, Anna
Publicado 2018

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

por Spataro, Nino, Trujillo-Quintero, Juan Pablo, Manso, Carmen, Gabau, Elisabeth, Capdevila, Nuria, Martinez-Glez, Victor, Berenguer-Llergo, Antoni, Reyes, Sara, Brunet, Anna, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Publicado 2023

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

por Viñas-Jornet, Marina, Esteba-Castillo, Susanna, Baena, Neus, Ribas-Vidal, Núria, Ruiz, Anna, Torrents-Rodas, David, Gabau, Elisabeth, Vilella, Elisabet, Martorell, Lourdes, Armengol, Lluís, Novell, Ramon, Guitart, Míriam
Publicado 2018

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

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

New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

por Aguilera, Cinthia, Gabau, Elisabeth, Ramirez-Mallafré, Ariadna, Brun-Gasca, Carme, Dominguez-Carral, Jana, Delgadillo, Veronica, Laurie, Steve, Derdak, Sophia, Padilla, Natàlia, de la Cruz, Xavier, Capdevila, Núria, Spataro, Nino, Baena, Neus, Guitart, Miriam, Ruiz, Anna
Publicado 2021

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

por Thygesen, Johan H., Wolfe, Kate, McQuillin, Andrew, Viñas-Jornet, Marina, Baena, Neus, Brison, Nathalie, D'Haenens, Greet, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Ruiz, Anna, Vermeesch, Joris, Weyts, Eddy, Novell, Ramon, Buggenhout, Griet Van, Strydom, André, Bass, Nick, Guitart, Miriam, Vogels, Annick
Publicado 2018