Debra S Regier

7PUBLICATIONS
16CO-AUTHORS
Metabolic medicineDiagnostic radiographyMedical molecular engineering of nucleic acids and proteinsInfant and child healthMedicine, nursing and health curriculum and pedagogy
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Publications (7)

|Dec 26, 2024
Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Thomas Cassini, Sarah Silverstein, Molly Behan

|May 23, 2022
The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study.

Debra S Regier, Jennifer A Weaver, Nancy Cheng

|Jan 11, 2021
Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.

Andrea J Cohen, Natasha Shur, Danielle Starin

|Oct 24, 2020
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

Kerri Bosfield, Debra S Regier, Sarah Viall

|Apr 24, 2020
Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.

Debra S Regier, Wendy E Smith, Heather M Byers

|Sep 10, 2019
Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.

Julia A Sabatino, Danielle Starin, Shamir Tuchman

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Frequent Collaborators

1 joint publications

Carlos Ferreira

1 joint publications

Wendy E Smith

1 joint publications

Heather M Byers

1 joint publications

Kerri Bosfield