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Maura R Z Ruzhnikov

5PUBLICATIONS
30CO-AUTHORS
Molecular medicineOptical properties of materialsEpigenetics (incl. genome methylation and epigenomics)Neonatology
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Journal

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

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

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