Marina Macchiaiolo

10PUBLICATIONS
19CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeonatologyInfant and child healthHaematological tumoursNgā pūnaha whakahaere mōhiohio me te mātauranga o te Māori (Māori information and knowledge management systems)
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Publications (10)

|Sep 25, 2026
Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

|May 13, 2026
Unusual Head and Neck Vascular Patterns in Two Patients With Cornelia de Lange Syndrome: A Case-Based Insight Into Cerebrovascular Anomalies.

|Aug 23, 2023
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.

Filippo Maria Panfili, Paola Valente, Andrea Ficari

|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

|Jun 18, 2022
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.

Marina Macchiaiolo, Filippo M Panfili, Davide Vecchio

|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

4 joint publications

Paola Sabrina Buonuomo

2 joint publications

Filippo Maria Panfili

1 joint publications

Jennifer M Kalish

1 joint publications

Julian A Martinez-Agosto