European Journal Of Medical Genetics

TRPM4 mutations to cause autosomal recessive and not autosomal dominant Brugada type 1 syndrome

Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

Controlled ovarian hyperstimulation (COH) parameters associated with euploidy rates in donor oocytes

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Harmonising phenomics information for a better interoperability in the rare disease field

Clinic, pathogenic mechanisms and drug testing of two inherited thrombocytopenias, ANKRD26-related Thrombocytopenia and MYH9-related diseases

A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family

A complex phenotype in a family with a pathogenic SOX3 missense variant