Julie Harvengt

Severe hypotonia and developmental delay due to an EBF3 pathogenic variant: Clinical implications of a molecular defect and narrative review

Hyperphagia and Genetic Obesity, a growing concern in daily practice. Genetic testing–when to prescribe?

Management of achondroplasia in Belgium: Overview of the current practice based on a multicentric survey.

HIDEA syndrome: A new case report highlighting similarities with ROHHAD syndrome

Missense variant c. 593A> G p.(Lys198Arg) in CSNK2A1, a recurrent variant in Okur-Chung neurodevelopmental syndrome: a case report and review of literature

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

Rapid whole genome sequencing diagnoses and guides treatment in critically ill children in Belgium in less than 40 hours

Genetics of severe early-onset obesity: diagnosis of monogenic etiologies as a new paradigm and challenge in the era of new anti-obesity therapies