Maura R Z Ruzhnikov
5PUBLICATIONS
30CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (5)
Sort by Publication Date:
|Jan 07, 2026
CURE ID: A Platform to Collect Real-World Treatment Data for Drug Repurposing in Rare Genetic Disorders.Tahsin Farid, Maura R Z Ruzhnikov, Mili Duggal
|Sep 07, 2023
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.Ryan W Gates, Bryn D Webb, David A Stevenson
|Mar 04, 2022
Delineating the epilepsy phenotype of NGLY1 deficiency.Rebecca J Levy, Christina H Frater, William B Gallentine
|Feb 08, 2022
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.John E Gorzynski, Sneha D Goenka, Kishwar Shafin
|Mar 19, 2020
Metabolic Disorders Presenting with Seizures in the Neonatal Period.Elise Brimble, Maura R Z Ruzhnikov
Pageof 1
Frequent Collaborators
1 joint publications
Rebecca J Levy
1 joint publications
John E Gorzynski
1 joint publications
Sneha D Goenka
1 joint publications
Kishwar Shafin
1 joint publications
Megan E Grove
1 joint publications
Jean Monlong
1 joint publications
Jonathan A Bernstein
1 joint publications
Scott Ceresnak
1 joint publications
Pi-Chuan Chang
1 joint publications
Henry Chubb
