- Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
- Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(12). p.693-700 Mark(
- Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations
A rare case of protein-loosing enteropathy and congenital lymphedema: Milroy's disease
2012) TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE. 14(1). p.34-34 Mark(
- The new Ghent criteria for Marfan syndrome: what do they change ?
- In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
- A rare case of protein-loosing enteropathy and congenital lymphedema?
Gastrointestinal problems in children with Down syndrome
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- Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium