Evgenia Sklirou

Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders

Evgenia Sklirou, Ahmad Alodaib, Steven F. Dobrowolski et al. · Frontiers in Genetics · 2021 · 38 citations · Full text

Life Sciences, Cardiology, Physiology +17

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger et al. · Genetics in Medicine · 2021 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Compound heterozygous loss of function variants in <i>MYL9</i> in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Justin L. Kandler, Evgenia Sklirou, Audrey C. Woerner et al. · Molecular Genetics & Genomic Medicine · 2020 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort

Christina Lam, Fernando Scaglia, Austin Larson et al. · Molecular Genetics and Metabolism · 2024 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14