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- 2017
- Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
- A CARD9 founder mutation p.Arg70Trp in Belgian and French patients of Turkish origin with a spectrum of chronic mucocutaneous and invasive fungal infections
- Myhre syndrome : broadening the phenotypic spectrum
- Second hit landscape in BRCA-associated breast cancer
- In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
- Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
- Congenital contractural arachnodactyly : delineation of clinical criteria
- CRISPR/Cas9-mediated genome editing in naive human embryonic stem cells followed by neural differentiation : an optimized workflow
- Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
- Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome