Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

Por Roca, Iria, Fernández-Marmiesse, Ana, Gouveia, Sofía, Segovia, Marta, Couce, María L.
Publicado no Int J Mol Sci (2018)

Arterial stiffness assessment in patients with phenylketonuria

Por Hermida-Ameijeiras, Alvaro, Crujeiras, Vanesa, Roca, Iria, Calvo, Carlos, Leis, Rosaura, Couce, María-Luz
Publicado no Medicine (Baltimore) (2017)

Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

Por Sánchez-Pintos, Paula, de Castro, Maria-Jose, Roca, Iria, Rite, Segundo, López, Miguel, Couce, Maria-Luz
Publicado no Sci Rep (2017)

Micronutrient in hyperphenylalaninemia

Por Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
Publicado no Data Brief (2015)

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

Por Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
Publicado no Orphanet J Rare Dis (2016)

A novel missense mutation in GRIN2A causes a non-epileptic neurodevelopmental disorder

Por Fernández-Marmiesse, Ana, Kusumoto, Hirofumi, Rekarte, Saray, Roca, Iria, Zhang, Jin, Myers, Scott J., Traynelis, Stephen F., Couce, Ma Luz, Gutierrez-Solana, Luis, Yuan, Hongjie
Publicado no Mov Disord (2018)

Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

Por Emperador, Sonia, Bayona-Bafaluy, M Pilar, Fernández-Marmiesse, Ana, Pineda, Mercedes, Felgueroso, Blanca, López-Gallardo, Ester, Artuch, Rafael, Roca, Iria, Ruiz-Pesini, Eduardo, Couce, María Luz, Montoya, Julio
Publicado no Eur J Hum Genet (2017)

Carbohydrate status in patients with phenylketonuria

Por Couce, María L., Sánchez-Pintos, Paula, Vitoria, Isidro, De Castro, María-José, Aldámiz-Echevarría, Luís, Correcher, Patricia, Fernández-Marmiesse, Ana, Roca, Iria, Hermida, Alvaro, Martínez-Olmos, Miguel, Leis, Rosaura
Publicado no Orphanet J Rare Dis (2018)