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Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review2025 Journal of Huntington s Disease article Neuroscience Genetic Neurodegenerative Diseases Open access
Anna van Hofslot, Mayke Oosterloo, Joost J.A. de Jong, Ruben L. Andriessen, Susanne Tamara de Bot, David E.J. Linden
0citations -
Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Calvin B. van Kwawegen, Ferdows Atiq, Dara Endenburg, Karin Fijnvandraat, Karin P. M. van Galen, Marjon H. Cnossen, +8 more
7citations -
Clinical characterization and genotype–phenotype correlations in Chilton-Okur-Chung syndrome2026 BMC Medical Genomics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Mehmet Buğrahan Düz, Amaia Lasa‐Aranzasti, Ana Cazurro‐Gutiérrez, Anna Hackett, Anna Maria Cueto-González, Arthur Arenas Périco, +22 more
0citations -
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature2025 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Marielle M. Alders, Angela Bahr, +60 more
8citations -
Blood Monocyte Phenotype Fingerprint of Stable Coronary Artery Disease: A Cross‐Sectional Substudy of SMARTool Clinical Trial2020 BioMed Research International article Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Silverio Sbrana, Jonica Campolo, Alberto Clemente, Luca Bastiani, Antonella Cecchettini, Elisa Ceccherini, +8 more
30citations -
Expression of NK cell receptor ligands in primary colorectal cancer tissue in relation to the phenotype of circulating NK- and NKT cells, and clinical outcome2020 Molecular Immunology article Immunology and Microbiology Immune Cell Function and Interaction Open access
Daniëlle Krijgsman, Jessica P Roelands, Morten Nørgaard Andersen, Cornelia H.L.A. Wieringa, Rob A.�E.�M. Tollenaar, Wouter Hendrickx, +3 more
28citations -
Patient with an autosomal‐recessive MBTPS1 ‐linked phenotype and clinical features of Silver–Russell syndrome2020 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Robert Meyer, Miriam Elbracht, Thomas Opladen, Thomas Eggermann
17citations -
Clinical and computed tomography characteristics of COVID-19 associated acute pulmonary embolism: A different phenotype of thrombotic disease?2020 Thrombosis Research article Medicine Venous Thromboembolism Diagnosis and Management Open access
Lisette F. van Dam, Lucia J.M. Kroft, Lea Imeen van der Wal, Suzanne C. Cannegieter, Jeroen C.J. Eikenboom, Evert de Jonge, +2 more
192citations -
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals2023 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Saskia Koene, Fabienne G. Ropers, Jannelien Wieland, T Rybak, Floor Wildschut, Dagmar Berghuis, +7 more
11citations -
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency2020 Blood article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Sujal Ghosh, Sevgi Köstel Bal, Emily S.J. Edwards, Bethany A. Pillay, Raúl Jiménez Heredia, Funda Çipe, +62 more
103citations -
Antibodies against advanced glycation end-products and malondialdehyde-acetaldehyde adducts identify a new specific subgroup of hitherto patients with seronegative arthritis with a distinct clinical phenotype and an HLA class II association
Michelle D van den Beukel, Tineke J van Wesemael, Anna Titia W Hoogslag, Nicole V. Borggreven, Tom W. J. Huizinga, Annette H M van der Helm–van Mil, +3 more
12citations -
Blood M2-like Monocyte Polarization Is Associated with Calcific Plaque Phenotype in Stable Coronary Artery Disease: A Sub-Study of SMARTool Clinical Trial2022 Biomedicines article Immunology and Microbiology Atherosclerosis and Cardiovascular Diseases Open access
Silverio Sbrana, Antonella Cecchettini, Luca Bastiani, Nicoletta Di Giorgi, Annamaria Mazzone, Elisa Ceccherini, +8 more
5citations -
A multicenter prospective observational cohort study to improve diagnostic yield and clinical management of persons with a Bleeding Disorder of Unknown Cause (BDUC-iN study protocol)2026 Research and Practice in Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Caroline M. A. Mussert, Amber van Dulmen, Amaury Monard, Bram Brandt, Floor Derikx, Nienke Meskes, +14 more
0citations -
Identification of clinical phenotypes of peripheral involvement in patients with spondyloarthritis, including psoriatic arthritis: a cluster analysis in the worldwide ASAS-PerSpA study
Clementina López‐Medina, Sylvie Chevret, Anna Moltó, Joachim Sieper, Mehmet Tuncay Duruöz, Uta Kiltz, +24 more
17citations