Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Growth Responses During 3 Years of Growth Hormone Treatment in Children and Adolescents With Growth Hormone Deficiency: Comparison Between Idiopathic, Organic and Isolated Growth Hormone Deficiency, and Multiple Pituitary Hormone Deficiency

Association of Early Pubertal Onset in Female Rats With Inhalation of Lavender Oil

Long-term Clinical Consequences in Patients with Urea Cycle Disorders in Korea: A Single-center Experience

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

Single random measurement of urinary gonadotropin concentration for screening and monitoring girls with central precocious puberty

Improving the lives of children with neurofibromatosis type 1

Pancreatic involvement in patients with inborn errors of metabolism