EvgeniaSklirouMD
Medical Genetics • Pittsburgh, PAClinical Genetics, Medical Biochemical Genetics
Physician
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Office
4401 Penn Ave
Pittsburgh, PA 15224- Is this information wrong?
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
- 7 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, Edra London, Jill A. Rosenfeld, Erin Torti, Chad R. Haldeman-Englert, Evgenia...> ;Genetics in Medicine. 2021 Apr 8
- 22 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 Jan 15
- 10 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, Yuan Xue> ;Molecular Genetics & Genomic Medicine. 2020 Oct 8
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Hospital Affiliations
UPMC Children's Hospital of PittsburghPittsburgh, Pennsylvania
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