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Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data2024 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
Judith S. Renes, Ardine Reedijk, Monique Losekoot, Sarina G. Kant, Manouk van der Steen, Daniëlle C M van der Kaay, +2 more
12citations -
Novel Genetic and Biochemical Insights into the Spectrum of NEFL -Associated Phenotypes2024 Journal of Neuromuscular Diseases article Neuroscience Hereditary Neurological Disorders Open access
Adela Della Marina, Andreas Hentschel, Artur Czech, Ulrike Schara, Corinna Preuße, Andreas Laner, +7 more
10citations -
Tamoxifen pharmacokinetics and pharmacodynamics in older patients with non-metastatic breast cancer2023 Breast Cancer Research and Treatment article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Esteban T.D. Souwer, Anabel Sanchez‐Spitman, Dirk Jan A. R. Moes, Hans A. J. Gelderblom, Jesse Joachim Swen, Johanneke E.A. Portielje, +2 more
7citations -
Targeting the Gut–Brain Axis with Fecal Microbiota Transplantation: Considerations on a Potential Novel Treatment for Parkinson's Disease2022 Movement Disorders Clinical Practice article Medicine Parkinson's Disease Mechanisms and Treatments Open access
Maria Fiorella Contarino, Jacobus Johannes van Hilten, Ed J. Kuijper
7citations -
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 Human Molecular Genetics article Medicine Cardiac electrophysiology and arrhythmias Open access
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, +12 more
5citations -
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia2023 Children article Biochemistry, Genetics and Molecular Biology dental development and anomalies Open access
Ali Al Kaissi, SERGEY OLEGOVYCH RYABYKH, Vladimir Markovich Kenis, Farid Ben Chehida, Hamza Al Kaissi, Susanne Gerit Kircher, +1 more
4citations -
Interspecies interaction reshapes the fitness landscape of evolved genotypes2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Evolution and Genetic Dynamics Open access
Xinli Sun, Zhihui Xu, Guohai Hu, Jiyu Xie, Yun Li, Nan Zhang, +5 more
2citations -
Sensitivity of Different Clinical Outcome Measures in Assessing Adults With Becker Muscular Dystrophy2025 Neurology article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
Esther J. Schrama, Zaïda Koeks, Nienke M. van de Velde, Iris Alleman, Jules J. van Benthem, Pieteke W. van Weperen, +8 more
2citations -
Sexual Dimorphism in the Relationships Between Intramyocardial Fat, Myocardial Fibrosis, and Exercise Intolerance in Heart Failure with Preserved Ejection Fraction2024 European Journal of Heart Failure article Medicine Cardiovascular Disease and Adiposity Open access
Arnold C.T. Ng, Xin Dong, Katlyn E. Koepp, Masaru Obokata, Hidemi Sorimachi, Graham J. Galloway, +4 more
2citations -
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Cardiac electrophysiology and arrhythmias Open access
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, +12 more
1citations -
Evaluation of a pantoprazole and 4‐desmethylpantoprazole‐sulfate metabolic ratio as a novel CYP2C19 phenotyping method2026 British Journal of Clinical Pharmacology article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Julian Peter Müller, Vladimir N. Belov, Sabrina Yamoune, Bob Miller, Mohammed Hasoumi, Jolanta Tupiec, +4 more
1citations -
Editorial: Innovations in pharmacogenomics: embracing diversity and clinical application2026 Frontiers in Pharmacology editorial Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Maaike van der Lee, Sarah Cargnin, Elena Peruzzi, Claudia Pisanu, Rossana Roncato
0citations -
Prenatal Presentation of RMRP ‐Related Skeletal Dysplasia: Clinical and Genomic Expansion2026 American Journal of Medical Genetics Part C Seminars in Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Periyasamy Radhakrishnan, Pascal Joset, Hermine E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, +16 more
0citations -
monarch-initiative/mondo: v2026-01-062026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Nicole Vasilevsky, Chris J Mungall, Nicolas Matentzoglu, Sabrina Toro, Trish Whetzel, MeeSiing Ngu, +20 more
0citations -
Immature Neutrophil Phenotype and Enhanced Myeloperoxidase in Male Patients With Chronic Kidney Disease and Cardiovascular Comorbidity2026 Acta Physiologica article Immunology and Microbiology Neutrophil, Myeloperoxidase and Oxidative Mechanisms Open access
Sonja Vondenhoff, Alessandra Antwerpen, Carolina Victória Cruz Junho, Philipp Martin, Sina Hourtz, Jinmi Zou, +17 more
0citations -
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias2020 Stem Cell Reports article Medicine Cardiac electrophysiology and arrhythmias Open access cited by 1 patent
Karina O. Brandão, Lettine van den Brink, Duncan C. Miller, Catarina Grandela, Berend J. van Meer, Mervyn P.H. Mol, +6 more
44citations