Evgenia Sklirou

机构：Center for Genomic Science

发表论文 13 篇 · 总被引 124 次 · h-index 5

代表论文

• Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders (2021 · Frontiers in Genetics · 被引 38)
• Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain (2021 · Genetics in Medicine · 被引 30)
• Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort (2024 · Molecular Genetics and Metabolism · 被引 20)
• Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome (2020 · Molecular Genetics & Genomic Medicine · 被引 19)
• Inborn Errors of Metabolism with Cognitive Impairment (2018 · Pediatric Clinics of North America · 被引 11)
• P307: Atypical presentation of central precocious puberty in a patient with RHOA-related disorder (2023 · Genetics in Medicine Open · 被引 4)