Caterina Marconi
6PUBLICATIONS
32CO-AUTHORS
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Publications (6)
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|Jul 08, 2025
A case of nephrocalcinosis in a 7-month-old with congenital hypothyroidism: Insights from targeted exome sequencing.Omar Zgheib, Lina Quteineh, Paloma Parvex
|May 30, 2024
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.Antonio Marzollo, Stefania Zampieri, Serena Barozzi
|Jan 11, 2024
Homozygous substitution of threonine 191 by proline in polymerase η causes Xeroderma pigmentosum variant.Roberto Ricciardiello, Giulia Forleo, Lina Cipolla
|May 26, 2021
Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.Caterina Marconi, Laure Lemmens, Frédéric Masclaux
|Jul 19, 2020
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.Elisa Benetti, Rossella Tita, Ottavia Spiga
|Dec 29, 2018
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.Caterina Marconi, Christian A Di Buduo, Kellie LeVine
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Frequent Collaborators
2 joint publications
Serena Barozzi
2 joint publications
Alessandro Pecci
2 joint publications
Omar Zgheib
1 joint publications
Spencer McKinstry
1 joint publications
Andrea Ciolfi
1 joint publications
Alfredo Brusco
1 joint publications
Marco Tartaglia
1 joint publications
Alessandra Renieri
1 joint publications
Marc Abramowicz
1 joint publications
Roberto Ricciardiello
