Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

por Fernández, Raquel M., Peciña, Ana, Muñoz‐Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud
Publicado 2016

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

por Marcos, Ana T., Amorós, Diego, Muñoz-Cabello, Beatriz, Galán, Francisco, Rivas Infante, Eloy, Alcaraz‐Mas, Luis, Navarro‐Pando, José M.
Publicado 2020

Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

por Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J., Miller, Weston, Sepulveda, Bryan, Kamath, Binita M., Meng, Hui, Lawlor, Michael W.
Publicado 2022