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Office
6673 Germantown Ave
Philadelphia, PA 19119Phone+1 215-247-2996
Education & Training
Commonwealth Medical CollegeClass of 2018
Certifications & Licensure
PA State Medical License 2018 - 2024- American Board of Pediatrics Pediatrics
Publications & Presentations
PubMed
- 3 citationsImpaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.Sally C Fletcher, Charlotte Hall, Tristan J Kennedy, Sander Pajusalu, Monica H Wojcik
The Journal of Clinical Investigation. 2023-04-03 - 2 citationsBiochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.Midhat Rizvi, Tina K Truong, Janet Zhou, Manav Batta, Ellen S Moran
Human Molecular Genetics. 2023-04-20 - 4 citationsClinical Heterogeneity and Different Phenotypes in Patients withVariants: 18 New Patients and Review of the Literature.Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla
Genes. 2023-05-29
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