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A clinical scoring system for congenital contractural arachnodactyly
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
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Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency