Hospital Universitario La Paz


Location: Madrid, Spain (ES) ES

ISNI: 0000000089709163


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year




DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article 2023 EULAR recommendations on imaging in diagnosis and management of crystal-induced arthropathies in clinical practice (2024) Mandl P, D'Agostino MA, Navarro-Compán V, Geßl I, Sakellariou G, Abhishek A, Becce F, 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 A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry (2023) Middha P, Wang X, Behrens S, Bolla MK, Wang Q, Dennis J, Michailidou K, et al. Journal article Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia (2023) Garcia-Garcia A, De Diego RP, Flores C, Rinchai D, Sole-Violan J, Deya-Martinez A, Garcia-Solis B, et al. Journal article 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 Implementation of a centralized pharmacovigilance system in academic pan-European clinical trials: Experience from EU-Response and conect4children consortia. (2023) Terzić V, Levoyer L, Figarella M, Mercier N, De Gastines L, Gibowski S, Demotes J, et al. Journal article, Review 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