Francesca Mattioli
4PUBLICATIONS
33CO-AUTHORS
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Publications (4)
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|Dec 12, 2024
Further delineation of the SCAF4-associated neurodevelopmental disorder.Cosima M Schmid, Anne Gregor, Anna Ruiz
|Mar 29, 2023
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.Nazia Ibrahim, Shagufta Naz, Francesca Mattioli
|Nov 12, 2021
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha
|Feb 02, 2021
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.Francesca Mattioli, Norine Voisin, Eglė Preikšaitienė
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Frequent Collaborators
2 joint publications
Alexandre Reymond
1 joint publications
Nazia Ibrahim
1 joint publications
Shagufta Naz
1 joint publications
Nicolas Guex
1 joint publications
Saima Sharif
1 joint publications
Cosima M Schmid
1 joint publications
Anna Ruiz
1 joint publications
Lucie Dupuis
1 joint publications
Anaïs Begemann
1 joint publications
Anita Rauch
