Athina Ververi
7PUBLICATIONS
95CO-AUTHORS
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Publications (7)
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|Jun 24, 2025
An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.E Woods, N Holmes, A S Denommé-Pichon
|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske van Woerden
|Aug 26, 2023
Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.Maria Moutafi, Nikolaos Gkiourtzis, Athina Ververi
|Sep 06, 2022
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.Athina Ververi, Sara Zagaglia, Lara Menzies
|Jan 20, 2022
Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?Athina Ververi, Theodora Stathopoulou, Aggeliki Kontou
|Jul 11, 2017
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.A Ververi, M Splitt, J C S Dean
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Frequent Collaborators
1 joint publications
E Woods
1 joint publications
A S Denommé-Pichon
1 joint publications
C Gooch
1 joint publications
C W Ockeloen
1 joint publications
R Legg
1 joint publications
M Balasubramanian
1 joint publications
Julia Baptista
1 joint publications
Richard Caswell
1 joint publications
Alexandre Reymond
1 joint publications
Maria Moutafi
