Hospital Universitario La Paz

A Quality Assessment of the ARM-Net Registry Design and Data Collection. (2023) Hageman IC, van der Steeg HJ, Jenetzky E, Trajanovska M, King SK, de Blaauw I, van Rooij IA, et al. Journal article Competency-based cardiac imaging for patient-centred care. A statement of the European Society of Cardiology (ESC). With the contribution of the European Association of Cardiovascular Imaging (EACVI), and the support of the Association of Cardiovascular Nursing & Allied Professions (ACNAP), the Association for Acute CardioVascular Care (ACVC), the European Association of Preventive Cardiology (EAPC), the European Association of Percutaneous Cardiovascular Interventions (EAPCI), the European Heart Rhythm Association (EHRA), and the Heart Failure Association (HFA) of the ESC. (2023) Westwood M, Almeida AG, Barbato E, Delgado V, Dellegrottaglie S, Fox KF, Gargani L, et al. Journal article The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome (2022) Popp B, Bienvenu T, Giurgea I, Metreau J, Kraus C, Reis A, Fischer J, et al. Journal article Patient Characteristics and Treatment Patterns in European Pediatric Patients with Psoriasis: A Real-World, Cross-Sectional Study (2022) Sticherling M, Mcpherson T, Laguna RDL, Costanzo A, Reed C, Artime E, Robert C, et al. Journal article De novo missense variants in FBXO11 alter its protein expression and subcellular localization (2022) Gregor A, Meerbrei T, Gerstner T, Toutain A, Lynch SA, Stals K, Maxton C, et al. Journal article, Original article Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article The 2021 Updated European Association of Urology Guidelines on Metastatic Urothelial Carcinoma (2022) Cathomas R, Lorch A, Bruins HM, Compérat EM, Cowan NC, Efstathiou JA, Fietkau R, et al. Journal article, Review article TROPHY registry — status report (2021) Thomale UW, Auer C, Spennato P, Schaumann A, Behrens P, Gorelyshev S, Bogoslovskaia E, et al. Journal article DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article Missense variants in NDD-associated FBXO11 impair its localization and Fbxo11 deficiency leads to neuronal impairment in Drosophila melanogaster (2020) Gregor A, Meerbrei T, Distel L, Gerstner T, Gupta A, Toutain A, Lynch SA, et al. Conference contribution