Only one beer can be mortal: a case report of two sisters with cardiac arrest due to a homozygous mutation in PPA2 gene

por Manzanilla-Romero, Héctor Hugo, Schermer, Elisabeth, Mayr, Agnes, Rudnik-Schöneborn, Sabine
Publicado 2023

Low‐level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways

por Manzanilla‐Romero, Héctor Hugo, Weis, Denisa, Schnaiter, Simon, Rudnik‐Schöneborn, Sabine
Publicado 2021