Paola Sabrina Buonuomo

8PUBLICATIONS
52CO-AUTHORS
Adolescent healthRespiratory diseasesHaematological tumoursDevelopmental genetics (incl. sex determination)Photonics, optoelectronics and optical communications
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Publications (8)

|Mar 28, 2025
Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group.

Cristina Pederiva, Federica Galimberti, Manuela Casula

|Apr 26, 2024
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Anwar Baban, Giovanni Parlapiano, Marianna Cicenia

|Jul 23, 2022
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.

Marina Macchiaiolo, Filippo M Panfili, Davide Vecchio

|May 16, 2022
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.

Davide Vecchio, Dario Cocciadiferro, Marina Macchiaiolo

|Mar 08, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Alessandro Mussa, Chiara Leoni, Matteo Iacoviello

|Sep 18, 2020
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.

Marina Macchiaiolo, Filippo Maria Panfili, Michaela Veronika Gonfiantini

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Frequent Collaborators

3 joint publications

Marina Macchiaiolo

2 joint publications

Filippo Maria Panfili

2 joint publications

Maria Cristina Digilio

1 joint publications

Gerarda Mastrogiorgio