From Hip to Heart: A Comprehensive Evaluation of an Infiltrative Cardiomyopathy

por Singh, Manavotam, Krishnan, Mrinalini, Ghazzal, Amre, Halushka, Marc, Tozzi, James E., Bunning, Robert D., Rodrigo, Maria E., Najjar, Samer S., Molina, Ezequiel J., Sheikh, Farooq H.
Publicado 2021

Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol

por Arnedo, María, Menao, Sebastián, Puisac, Beatriz, Teresa-Rodrigo, María E., Gil-Rodríguez, María C., López-Viñas, Eduardo, Gómez-Puertas, Paulino, Casals, Nuria, Casale, César H., Hegardt, Fausto G., Pié, Juan
Publicado 2012

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Pozojevic, Jelena, Parenti, Ilaria, Baquero-Montoya, Carolina, Gil-Rodríguez, María C., Braunholz, Diana, Dalski, Andreas, Hernández-Marcos, María, Ayerza, Ariadna, Bernal, María L., Ramos, Feliciano J., Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Pié, Juan, Kaiser, Frank J.
Publicado 2016

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

por Teresa-Rodrigo, María E., Eckhold, Juliane, Puisac, Beatriz, Dalski, Andreas, Gil-Rodríguez, María C., Braunholz, Diana, Baquero, Carolina, Hernández-Marcos, María, de Karam, Juan C., Ciero, Milagros, Santos-Simarro, Fernando, Lapunzina, Pablo, Wierzba, Jolanta, Casale, César H., Ramos, Feliciano J., Gillessen-Kaesbach, Gabriele, Kaiser, Frank J., Pié, Juan
Publicado 2014