Zeitschrift
Orphanet Journal of Rare Diseases
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ResearchOral disorders in children with Prader-Willi syndrome: a case control study
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ResearchFive new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum
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ReviewEpidemiological and advanced therapeutic approaches to treatment of uveitis in pediatric rheumatic diseases: a systematic review and meta-analysis
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ResearchSignificantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes
