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European standard clinical practice : key issues for the medical care of individuals with familial leukemia
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HTAD patient pathway : strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) : a statement from the HTAD working group of VASCERN
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Marked hypotonia : an additional feature of ANO3-related movement disorder
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Arrhythmia and impaired myocardial function in heritable thoracic aortic disease : an international retrospective cohort study
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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
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Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
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Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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Somatic mosaics in hereditary tumor predisposition syndromes
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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
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Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism