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monarch-initiative/mondo: v2026-02-032026 Zenodo (CERN European Organization for Nuclear Research) software Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
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MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome2023 Journal of Molecular Diagnostics article Medicine Genetic factors in colorectal cancer Open access
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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies2022 European Journal of Human Genetics article Medicine Epilepsy research and treatment Open access
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Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping2023 Neurology Genetics article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access
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Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion2021 Hormone Research in Paediatrics article Medicine Growth Hormone and Insulin-like Growth Factors Open access
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Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas2023 Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin article Medicine Lymphoma Diagnosis and Treatment Open access
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach2023 Clinical Epigenetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
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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
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PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants2023 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
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