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- Journal Article
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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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- Journal Article
- A1
- open access
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
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Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
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The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation
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Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly
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Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12