Irene Bruno

7PUBLICATIONS
35CO-AUTHORS
Clinical chemistry (incl. diagnostics)Metabolic medicinePaediatrics not elsewhere classifiedInfant and child healthNeurology and neuromuscular diseases
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Publications (7)

|Mar 02, 2026
Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.

Irene Bruno, Luisa De Sanctis, Nadia Edvige Foligno

|Mar 04, 2022
A child without kneecaps.

Francesco Baldo, Andrea Magnolato, Irene Bruno

|May 07, 2021
A child without kneecaps.

Francesco Baldo, Andrea Magnolato, Irene Bruno

|Jul 12, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey

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