Publications by authors named "O Zuffardi"

Claim this Profile
F
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.
Esin Nur Erdogan, Chi Vicky Cheng, Stefano G Caraffi, Ivan Ivanovski, Gianluca Piatelli, Orsetta Zuffardi

Am J Med Genet A· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case.
Eliana Salvo, Romano Tenconi, Roberto Giorda, Sara Bertuzzo, Luca Cesana, Orsetta Zuffardi

Eur J Hum Genet· September 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Orsetta Zuffardi

Genet Med· June 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
Ugo Sorrentino, Elisa Baschiera, Maria Andrea Desbats, Orsetta Zuffardi, Leonardo Salviati

Am J Med Genet B Neuropsychiatr Genet· March 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.
Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Orsetta Zuffardi

Front Genet· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis