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Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease : results from the Montalcino Aortic Consortium
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- Journal Article
- A1
- open access
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
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Aarskog-Scott syndrome : a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations
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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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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines
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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