Annalisa Vetro

11PUBLICATIONS
101CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - lipidsAutonomic nervous systemInfant and child health
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Publications (11)

|Jul 28, 2026
Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD).

|Jan 02, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize

|Nov 11, 2023
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin

|Apr 21, 2021
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Annalisa Vetro, Hang N Nielsen, Rikke Holm

|Feb 12, 2020
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.

Annalisa Vetro, Tiziana Pisano, Silvia Chiaro

|Feb 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Katrine M Johannesen, Diana Mitter, Robert Janowski

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Frequent Collaborators

6 joint publications

Renzo Guerrini

3 joint publications

Katherine L Helbig

2 joint publications

Gaetan Lesca

2 joint publications

Tiziana Pisano