Katia Margiotti

19PUBLICATIONS
9CO-AUTHORS
Infant and child healthFoetal development and medicineDevelopmental genetics (incl. sex determination)NeurogeneticsMedical genetics (excl. cancer genetics)
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Publications (19)

|Sep 26, 2026
Prenatal Folinic Acid in FRAA-Positive Pregnancies: Preschool Neurodevelopmental Outcomes from a Pilot RCT Follow-Up.

|Jun 25, 2026
Folate Receptor Alpha Autoantibodies in Early Pregnancy: First-Trimester Reference Intervals and Proposed Clinical Thresholds.

|Feb 25, 2026
Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report.

Francesco Libotte, Katia Margiotti, Marco Fabiani

|Dec 30, 2025
Neurodevelopmental Phenotype Associated with TRIP12: Report of a Family Carrying the p.Asp1135Val Variant.

Katia Margiotti, Marco Fabiani, Antonella Cima

|Nov 27, 2024
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Katia Margiotti, Marco Fabiani, Antonella Cima

|Jul 04, 2024
Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants.

Katia Margiotti, Francesco Libotte, Marco Fabiani

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Frequent Collaborators

10 joint publications

Marco Fabiani

3 joint publications

Claudio Giorlandino

2 joint publications

Alvaro Mesoraca

1 joint publications

Silvia Bernardo