Cerebral Insulin Bolus Revokes the Changes in Hepatic Lipid Metabolism Induced by Chronic Central Leptin Infusion

por Barrios, Vicente, López-Villar, Elena, Frago, Laura M., Canelles, Sandra, Díaz-González, Francisca, Burgos-Ramos, Emma, Frühbeck, Gema, Chowen, Julie A., Argente, Jesús
Publicado 2021

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

por Diaz-Gonzalez, Francisca, Sacedo-Gutiérrez, Javier M., Twigg, Stephen R. F., Calpena, Eduardo, Carceller-Benito, Fernando E., Parrón-Pajares, Manuel, Santos-Simarro, Fernando, Heath, Karen E.
Publicado 2023

Variable skeletal phenotypes associated with biallelic variants in PRKG2

por Pagnamenta, Alistair T, Diaz-Gonzalez, Francisca, Banos-Pinero, Benito, Ferla, Matteo P, Toosi, Mehran B, Calder, Alistair D, Karimiani, Ehsan G, Doosti, Mohammad, Wainwright, Andrew, Wordsworth, Paul, Bailey, Kathryn, Ejeskär, Katarina, Lester, Tracy, Maroofian, Reza, Heath, Karen E, Tajsharghi, Homa, Shears, Deborah, Taylor, Jenny C
Publicado 2022