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- 2017
- A novel fibrillin-1 mutation in an Egyptian Marfan family : a proband showing nephrotic syndrome due to focal segmental glomerulosclerosis
- EV-TRACK : transparent reporting and centralizing knowledge in extracellular vesicle research
- Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
- The isolation of morphologically intact and biologically active extracellular vesicles from the secretome of cancer-associated adipose tissue
- Discriminative features in three autosomal recessive cutis laxa syndromes : cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica
- 2016
- Clinical utility gene card for: hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches
- STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
- A restricted repertoire of de novo mutations in ITPR1 cause Gillespie syndrome with evidence for dominant-negative effect
- Methyl-CpG-binding domain sequencing reveals a prognostic methylation signature in neuroblastoma
- Improving health related quality of life and independence in community dwelling frail older adults through a client-centred and activity-oriented program : a pragmatic randomized controlled trial