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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Robert H. E. Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, +12 more
77citations -
The Coma Cluster at LOFAR Frequencies. II. the Halo, Relic, and a New Accretion Relic2022 Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) article Physics and Astronomy Galaxies: Formation, Evolution, Phenomena Open access
A. Bonafede, G. Brunetti, L. Rudnick, F. Vazza, H. Bourdin, G. Giovannini, +23 more
67citations -
Blood-Based Biomarkers for Improved Characterization of Traumatic Brain Injury: Recommendations from the 2024 National Institute for Neurological Disorders and Stroke Traumatic Brain Injury Classification and Nomenclature Initiative Blood-Based Biomarkers Working Group
Jeffrey J. Bazarian, Henrik Zetterberg, András Büki, Bradley A. Dengler, Ramon R. Diaz-Arrastia, Frederick Kofi Korley, +17 more
65citations -
Sources of variation in multicenter rectal MRI data and their effect on radiomics feature reproducibility2021 European Radiology article Medicine Radiomics and Machine Learning in Medical Imaging Open access
Niels W. Schurink, Simon Robert van Kranen, Sander Roberti, Joost J. M. van Griethuysen, Nino Bogveradze, Francesca Castagnoli, +12 more
52citations -
NO TCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature2021 Neuropathology and Applied Neurobiology article Medicine Cerebrovascular and genetic disorders Open access
Gido Gravesteijn, Remco J. Hack, Aat A. Mulder, Minne N. Cerfontaine, Remco van Doorn, Ingrid M. Hegeman, +3 more
43citations -
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx, Tohru Sonoda, Andreas Janecke, +34 more
43citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
42citations -
Functional connectivity of supplementary motor area during finger-tapping in major depression2020 Comprehensive Psychiatry article Neuroscience Functional Brain Connectivity Studies Open access
Pegah Sarkheil, Panayiotis Odysseos, Ira Bee, Mikhail Zvyagintsev, Irene Neuner, Klaus Mathiak
41citations -
RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Joost Brinks, Jacoline ten Brink, Ralph J. Florijn, +4 more
40citations -
Generalization of Intrinsic Orbitals to Kramers-Paired Quaternion Spinors, Molecular Fragments, and Valence Virtual Spinors2021 Journal of Chemical Theory and Computation article Physics and Astronomy Advanced Chemical Physics Studies Open access
Bruno Senjean, Souloke Sen, Michal Repiský, Gerald Knizia, Lucas Visscher
39citations -
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum2023 Survey of Ophthalmology review Biochemistry, Genetics and Molecular Biology Diabetes and associated disorders Open access
Cansu de Muijnck, Jacoline B. ten Brink, Arthur A B Bergen, Camiel J. F. Boon, Maria M. van Genderen
38citations -
Autonomous Visual Detection of Defects from Battery Electrode Manufacturing2022 Advanced Intelligent Systems article Engineering Industrial Vision Systems and Defect Detection Open access
Nirmal Choudhary, Henning Clever, Robert Ludwigs, Michael Rath, Aymen Gannouni, Arno Schmetz, +6 more
36citations