Get started
Author

Madeline Q.R. Lopour

Observed names: Madeline Lopour, Madeline Q. Lopour, Madeline Q. R. Lopour
Institution: Mayo Clinic
Observed institution: Mayo Clinic
OpenAlex ID: A5046041244
A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report
2023 · Matheus V. M. B. Wilke, Lisa Schimmenti, et al. · Molecular Genetics & Genomic Medicine · 4
PDF
Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities
2025 · Kevin Ferenchak, Julie B. Guerin, et al. · American Journal of Neuroradiology · 2
Alström syndrome caused by maternal uniparental disomy
2022 · Madeline Q.R. Lopour, Lisa A. Schimmenti, et al. · American Journal of Ophthalmology Case Reports · 2
Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing
2023 · Michael C. Brodsky, Rory J. Olson, et al. · American Journal of Ophthalmology Case Reports · 1
A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1
2025 · Joseph Farris, Camila Dergam-Larson, et al. · BMC Medical Genomics
PDF
Works count: 5
Citation count: 9
H-index: 2
I10-index:
Year
Topic
Type