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Sofia E. Luna
Sofia E. Luna
Washington University in St. Louis
Internal medicine
Uncertain significance
Endocrinology
Compound heterozygosity
Exome sequencing
2
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2024
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Whole Exome Sequencing and Functional Characterization Increase Diagnostic Yield in Siblings with a 46, XY Difference of Sexual Development (DSD).
2021
The Journal of Steroid Biochemistry and Molecular Biology
Sofia E. Luna
Daniel J. Wegner
Sarah E. Gale
Ping Yang
Abby S. Hollander
Lori St. Dennis-Feezle
Zeina M. Nabhan
Daniel S. Ory
F. Sessions Cole
Jennifer A. Wambach
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A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.
2021
Molecular genetics and metabolism reports
Margaret M. Reynolds
Laura Linneman
Sofia E. Luna
Barbara B. Warner
Yumirle P. Turmelle
Sakil Kulkarni
Xuntian Jiang
Geetika Khanna
Marwan Shinawi
Forbes D. Porter
Daniel S. Ory
F. Sessions Cole
Patricia I. Dickson
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