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- Journal Article
- A1
- open access
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease : an international retrospective cohort study
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- Journal Article
- open access
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
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Somatic mosaics in hereditary tumor predisposition syndromes
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- Journal Article
- A1
- open access
Microcoria due to first duplication of 13q32.1 including the GPR180 gene and maternal mosaicism
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
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- Journal Article
- A1
- open access
New insights on the clinical variability of FKBP10 mutations
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A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations