Evgenia Globa

5PUBLICATIONS
15CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthDevelopmental genetics (incl. sex determination)Energy generation, conversion and storage (excl. chemical and electrical)
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Publications (5)

|Aug 12, 2026
Dual phenotype in a patient with adult-onset hyperinsulinism and diabetes caused by an activating MAFA variant.

|Nov 18, 2022
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Evgenia Globa, Nataliya Zelinska, Matthew B Johnson

|Jul 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Ken McElreavey, Anne Jorgensen, Caroline Eozenou

|Jul 31, 2018
The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Evgenia Globa, Nataliya Zelinska, Andrew Dauber

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Frequent Collaborators

1 joint publications

Ken McElreavey

1 joint publications

Anne Jorgensen

1 joint publications

Denis Houzelstein

1 joint publications

Federica Buonocore