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Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing
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Brachydactyly
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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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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Clinical and molecular phenotype of Aicardi-Goutieres syndrome