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Hiper IgD syndrome (HIDS): clinical and genetic features in five patientsDOI 10.1186/1546-0096-6-s1-p199
The clinical and genetic features of patients with hyper-immunoglobulin D syndrome (HIDS)Semantic proximity
Hyper-IgD syndrome: a new mutation (p.R277G) with a severe phenotypeSemantic proximity
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 PatientsSemantic proximity
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII.Semantic proximity
The idic(15) syndrome: expanding the phenotype.Semantic proximity
SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.Semantic proximity
Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1) on Chromosome 3p21Semantic proximity
Aicardi-Goutières Syndrome Is Caused by IFIH1 MutationsSemantic proximity
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSSemantic proximity
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).Semantic proximity
Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature reviewSemantic proximity
Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasiaSemantic proximity
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