Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

by Ramón Peces, Rocío Mena, Yolanda Martín, Concepción Hernández, Carlos Peces, Dolores Tellería, Emilio Cuesta, Rafael Selgas, Pablo Lapunzina, Julián Nevado
Published 2020-08-01

A new variant in PHKA2 is associated with glycogen storage disease type IXa

by Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Published 2017-03-01

New microdeletion and microduplication syndromes: a comprehensive review

by Julián Nevado, Rafaella Mergener, María Palomares-Bralo, Karen Regina Souza, Elena Vallespín, Rocío Mena, Víctor Martínez-Glez, María Ángeles Mori, Fernando Santos, Sixto García-Miñaur, Fé García-Santiago, Elena Mansilla, Luis Fernández, María Luisa de Torres, Mariluce Riegel, Pablo Lapunzina
Published 2014-01-01