Orsetta Zuffardi
8PUBLICATIONS
39CO-AUTHORS
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Publications (8)
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|Jun 04, 2025
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.Eliana Salvo, Romano Tenconi, Roberto Giorda
|Jul 02, 2021
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio
|Jul 02, 2021
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini
|Dec 19, 2020
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.Edoardo Errichiello, Roberto Giorda, Antonella Gambale
|Dec 18, 2020
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet
|Oct 03, 2018
De novo unbalanced translocations have a complex history/aetiology.Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello
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Frequent Collaborators
4 joint publications
Sabrina Giglio
2 joint publications
Francesca Clementina Radio
2 joint publications
Maria Clara Bonaglia
2 joint publications
Nehir Edibe Kurtas
2 joint publications
Edoardo Errichiello
2 joint publications
Sara Bertuzzo
2 joint publications
Aldesia Provenzano
2 joint publications
Stefano Giuseppe Caraffi
2 joint publications
Niels Tommerup
1 joint publications
Eliana Salvo
