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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
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- Journal Article
- A1
- open access
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome