Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

por Sánchez, Javier, Peciña, Ana, Alonso-Luengo, Olga, González-Meneses, Antonio, Vázquez, Rocío, Antiñolo, Guillermo, Borrego, Salud
Publicado 2014

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

por Guillén-Navarro, Encarna, Domingo-Jiménez, María Rosario, Alcalde-Martín, Carlos, Cancho-Candela, Ramón, Couce, María Luz, Galán-Gómez, Enrique, Alonso-Luengo, Olga
Publicado 2013

Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study

por Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J., Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar
Publicado 2023

Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

por Santos-Gómez, Ana, Miguez-Cabello, Federico, Juliá-Palacios, Natalia, García-Navas, Deyanira, Soto-Insuga, Víctor, García-Peñas, Juan J., Fuentes, Patricia, Ibáñez-Micó, Salvador, Cuesta, Laura, Cancho, Ramón, Andreo-Lillo, Patricia, Gutiérrez-Aguilar, Gema, Alonso-Luengo, Olga, Málaga, Ignacio, Hedrera-Fernández, Antonio, García-Cazorla, Àngels, Soto, David, Olivella, Mireia, Altafaj, Xavier
Publicado 2021