Barbara Testa

3PUBLICATIONS
8CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Sensory systems
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Publications (3)

|Oct 29, 2025
A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment.

Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi

|Apr 28, 2023
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome.

Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale

|Jul 27, 2022
NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint.

Giuseppina Conteduca, Davide Cangelosi, Simona Coco

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Frequent Collaborators

3 joint publications

Giuseppina Conteduca

3 joint publications

Domenico Coviello

2 joint publications

Rute Luísa Cabrita Pinto

2 joint publications

Silvia Viaggi