Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Vidal S, Pascual-Alonso A, Rabaza-GairĂ­ M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M, Rett Working Group, Armstrong J

Defining a mutational signature for endometrial cancer screening and early detection.

Costas L, Palomero L, Benavente Y, Guardiola M, Frias-Gomez J, Pavón MÁ, Climent M, Martinez JM, Barahona M, Salinas M, Pineda M, Bianchi I, Reventós J, Capellà G, Diaz M, Vidal A, Piulats JM, Ponce J, Brunet J, Bosch FX, Matias-Guiu X, Alemany L, de SanjosÊ S, AytÊs Á, Screenwide Team

Intensive vs Standard Treatment of Hyperglycemia and Functional Outcome in Patients With Acute Ischemic Stroke: The SHINE Randomized Clinical Trial.

Johnston KC, Bruno A, Pauls Q, Hall CE, Barrett KM, Barsan W, Fansler A, Van de Bruinhorst K, Janis S, Durkalski-Mauldin VL, Neurological Emergencies Treatment Trials Network and the SHINE Trial Investigators

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.

Pineda M, Juríčková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.

Pereira CS, PĂŠrez-Cabezas B, Ribeiro H, Maia ML, Cardoso MT, Dias AF, Azevedo O, Ferreira MF, Garcia P, Rodrigues E, Castro-Chaves P, Martins E, Aguiar P, Pineda M, Amraoui Y, Fecarotta S, LeĂŁo-Teles E, Deng S, Savage PB, Macedo MF