Roberta Petillo
Medical geneticist - Medical and Molecular Genetics Unit · AORN A. Cardarelli, Napoli
https://researchid.co/ptlrrt87c71f839a
@ospedalecardarelli.it
27Scopus Publications
Recent Scopus Publications
- Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach
- Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
- Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients
- Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report
- Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1
Links
- ORCID https://orcid.org/0000-0003-4543-3953
- Scopus https://www.scopus.com/authid/detail.uri?authorId=55998930900