• <em>CHAMP1</em>-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
• A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival
• DNA methylation profiling in Trisomy 21 females with and without breast cancer
• Does lithium poisoning induce brain injuries?-A histopathological rat study
• Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review
• Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
• Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice
• Impact of renal replacement therapy strategy on beta-lactam plasma concentrations: the BETAKIKI study-an ancillary study of a randomized controlled trial
• Inhaled nitric oxide in patients with acute respiratory distress syndrome caused by COVID-19: treatment modalities, clinical response, and outcomes
• Investigation of the Mechanisms of Tramadol-Induced Seizures in Overdose in the Rat
• Limitation of life-sustaining therapies in critically ill patients with COVID-19: a descriptive epidemiological investigation from the COVID-ICU study
• Megarbane syndrome
• Mental health symptoms are not correlated with peripheral inflammatory biomarkers concentrations in COVID-19-ARDS survivors
• Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene
• POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
• Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
• Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
• Statin Therapy to Improve Outcome of COVID-19 Patients: Useful or Not Useful?