Disease: Short stature syndrome- Brussels type
- A new familial short stature syndrome: Brussels type
- Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)
- Comparative study of the changes in insulin-like growth factor-I, procollagen-III N-terminal extension peptide, bone Gla-protein, and bone mineral content in children with Turner's syndrome treated with recombinant growth hormone
- DNAJC3 deficiency induces beta-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
- DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
- Further delineation of the KAT6B molecular and phenotypic spectrum
- Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
- Sporadic case of trichorhinophalangeal syndrome type III in a European patient
- tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans