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Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Inés Llinares‐Burguet, Lara Sanoguera‐Miralles, Elena Bueno Martínez, Ada Esteban‐Sánchez, Daniel Romano-Medina, Lobna Ramadane‐Morchadi, +7 more
1citations -
2025 ESC/EACTS valvular heart disease guidelines: practical updates on mitral and tricuspid regurgitation2026 European Heart Journal Supplements article Medicine Cardiac Valve Diseases and Treatments Open access
Marianna Adamo, Mauro Massussi, Nina Ajmone Marsan, Michael Andrew Borger, Fabien Praz, Marco Metra
1citations -
Treatment Outcomes of Endoscopic Lung Volume Reduction with Valves in Advanced Lung Emphysema Patients Are Largely Independent of Body Mass Index: Data from the German Lung Emphysema Registry
Jacopo Saccomanno, Thomas Sgarbossa, Konrad Neumann, Kaid Darwiche, Stefan Andreas, Stephan Eisenmann, +18 more
0citations -
Why we need treatment? Prognosis of tricuspid regurgitation2025 European Heart Journal Supplements article Medicine Cardiac Valve Diseases and Treatments Open access
José L. Zamorano, Pieter van der Bijl, Covadonga Fernández‐Golfín, Giorgia Benzoni, Maurizio Taramasso, Ángel Sánchez‐Recalde, +1 more
0citations -
Pivotal clinical trials in C3 glomerulopathy: answers and remaining uncertainties2026 Nephrology Dialysis Transplantation article Immunology and Microbiology Complement system in diseases Open access
Fernando Caravaca‐Fontán, Annette N. Bruchfeld, Sarah Margaret Moran, Stefanie Steiger, Kate Stevens, Y K Onno Teng, +4 more
0citations -
follow-up of a sample of apparent low-surface-brightness galaxy groups detected in the ROSAT All-Sky Survey2025 Springer Link (Chiba Institute of Technology) article Physics and Astronomy Galaxies: Formation, Evolution, Phenomena Open access
C. Spinelli, A. Veronica, F. Pacaud, TH Reiprich, K. Migkas, W. Xu, +1 more
0citations -
Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction2026 Brain article Biochemistry, Genetics and Molecular Biology Glycogen Storage Diseases and Myoclonus Open access
Luisa Averdunk, Martin Groß, Anna B. Hamacher, Sandra C. Donkervoort, Diran Agaid Herebian, Shekeeb S. Mohammad, +23 more
0citations -
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders2026 Genome Medicine article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access
Beatrice Valtorta, Reza Maroofian, Aveeva Herold, Irem Karagoz, Maha S Zaki, Denisa Bronišová, +26 more
0citations -
Sub-pixel electron detection using a convolutional neural network2020 Ultramicroscopy article Physics and Astronomy Particle Detector Development and Performance Open access cited by 3 patents
J. Paul van Schayck, Eric van Genderen, E. Maddox, Lucas Roussel, Hugo Boulanger, E. Fröjdh, +3 more
30citations -
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pleuntje J. van der Sluijs, Sébastien Moutton, Alexander J.M. Dingemans, Denisa Weis, Michael A. Levy, Kym M. Boycott, +39 more
6citations -
Genetically Determined Higher TSH Is Associated With a Lower Risk of Diabetes Mellitus in Individuals With Low BMI2021 The Journal of Clinical Endocrinology & Metabolism article Medicine Thyroid Disorders and Treatments Open access
Maxime M. Bos, Nicolien A van Vliet, Simon P. Mooijaart, Raymond Noordam, Diana van Heemst
4citations -
Successful pharmacological intervention at different levels of the complement system in an in vitro complement fixation model for bullous pemphigoid
Jenny Giang, Martijn B. A. van Doorn, Gilles F.H. Diercks, Santiago Rodrı́guez de Córdoba, Thierry P. P. van den Bosch, Marco W.J. Schreurs, +2 more
3citations -
Prognostic Implications of Right Ventricular–Pulmonary Arterial Coupling Derived from Right Ventricular Strain in Secondary Tricuspid Regurgitation2026 Journal of the American Society of Echocardiography article Medicine Cardiac Valve Diseases and Treatments Open access
Steele C. Butcher, Xavier Galloo, Federico Fortuni, Pieter van der Bijl, Nina Ajmone Marsan, Jeroen Joost Bax
0citations