Lipofuscinosis neuronal ceroidea y síndrome de Bardet-Biedl en paciente con retinosis pigmentaria

by José D. Santotoribio, Esperanza Lepe Balsalobre, Irene Alonso Pérez, Andrea Campo Barasoain, Hada C. Macher
Published 2021-08-01

Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa

by José D. Santotoribio, Esperanza Lepe-Balsalobre, Irene Alonso-Pérez, Andrea Campo-Barasoain, Hada C. Macher
Published 2021-08-01

Circulating cell-free DNA is a predictor of short-term neurological outcome in stroke patients treated with intravenous thrombolysis

by Alejandro Bustamante, Fernando Mancha, Hada C Macher, Teresa García-Berrocoso, Dolors Giralt, Marc Ribó, Juan M Guerrero, Joan Montaner
Published 2016-09-01

Non-invasive prenatal diagnosis of multiple endocrine neoplasia type 2A using COLD-PCR combined with HRM genotyping analysis from maternal serum.

by Hada C Macher, Maria A Martinez-Broca, Amalia Rubio-Calvo, Cristina Leon-Garcia, Manuel Conde-Sanchez, Alzenira Costa, Elena Navarro, Juan M Guerrero
Published 2012-01-01

Monitoring of transplanted liver health by quantification of organ-specific genomic marker in circulating DNA from receptor.

by Hada C Macher, Gonzalo Suárez-Artacho, Juan M Guerrero, Miguel A Gómez-Bravo, Sara Álvarez-Gómez, Carmen Bernal-Bellido, Inmaculada Dominguez-Pascual, Amalia Rubio
Published 2014-01-01

Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

by Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Published 2021-05-01

Obstructive sleep apnoea syndrome, endothelial function and markers of endothelialization. Changes after CPAP.

by Rocio Muñoz-Hernandez, Antonio J Vallejo-Vaz, Angeles Sanchez Armengol, Rafael Moreno-Luna, Candela Caballero-Eraso, Hada C Macher, Jose Villar, Ana M Merino, Javier Castell, Francisco Capote, Pablo Stiefel
Published 2015-01-01