EvgeniaSklirouMD
Medical Genetics • Pittsburgh, PAClinical Genetics, Medical Biochemical Genetics
Physician
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Office
4401 Penn Ave
Pittsburgh, PA 15224
Education & Training
University of AthensClass of 1999
Certifications & Licensure
PA State Medical License 2015 - 2024- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- 24 citationsPhysiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation DisordersEvgenia Sklirou, Ahmad N. Alodaib, Steven F. Dobrowolski, Al-Walid Mohsen, Jerry Vockley
Frontiers in Genetics. 2021-01-15 - 11 citationsCompound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.Justin L Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox
Molecular Genetics & Genomic Medicine. 2020-10-08 - 8 citationsVariants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.Felix Marbach, Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas
Genetics in Medicine. 2021-04-08
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