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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
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- Journal Article
- A1
- open access
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
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- Journal Article
- A1
- open access
Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer
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- Journal Article
- A1
- open access
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development
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SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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FOXP1-related intellectual disability syndrome : a recognisable entity
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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?
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- Journal Article
- A1
- open access
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS