Noelle A. Fabie

Noelle A. Fabie

Medical Genetics

2525 Chicago Avenue
Minneapolis, MN 55404

Last Updated: 09/26/2026

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Found 5 publications

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Journal: Nature communications

Published: February 06, 2024

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.

Journal: Molecular genetics and metabolism

Published: January 19, 2023

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Journal: Journal of medical genetics

Published: December 07, 2021

The Current State of Newborn Screening in the United States.

The Current State of Newborn Screening in the United States.

Journal: Pediatric clinics of North America

Published: March 02, 2019

Case 3: A 10-year-old Boy with Saber Shins.

Case 3: A 10-year-old Boy with Saber Shins.

Journal: Pediatrics in review

Published: October 03, 2018

Showing 1-5 of 5

Last Updated: 09/26/2026