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- 2017
- Congenital contractural arachnodactyly : delineation of clinical criteria
- Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
- Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome
- GGCX-associated phenotypes : an overview in search of genotype-phenotype correlations
- Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene
- Myhre syndrome : broadening the phenotypic spectrum
- Second hit landscape in BRCA-associated breast cancer