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Anna Maria Pinto

13PUBLICATIONS
45CO-AUTHORS
GenomicsPredictive and prognostic markersAnalytical spectrometryNephrology and urologyGene and molecular therapy
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Journal

Publications (13)

Sort by Publication Date:
|Dec 30, 2025
A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS.

Simona Innamorato, Simona L Basso, Omaima Belakhdar

|May 19, 2025
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.

Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman

|Nov 26, 2024
Correction: Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Sergio Daga, Lorenzo Loberti, Giulia Rollo

|Oct 18, 2024
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.

Sergio Daga, Lorenzo Loberti, Giulia Rollo

|Feb 02, 2023
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.

Susanna Croci, Miriam Lucia Carriero, Katia Capitani

|Jan 23, 2023
Correction: The 2019 and 2021 International workshops on Alport syndrome.

Sergio Daga, Jie Ding, Constantinos Deltas

Pageof 3

Frequent Collaborators

8 joint publications

Alessandra Renieri

4 joint publications

Elisa Frullanti

3 joint publications

Julia Hoefele

3 joint publications

Sergio Daga

2 joint publications

Beata S Lipska-Ziętkiewicz

2 joint publications

Silvestro Giovanni Conticello

2 joint publications

Chiara Fallerini

2 joint publications

Margherita Baldassarri

2 joint publications

Francesca Fava

2 joint publications

Francesca Mari

Frequent Collaborators

8 joint publications

Alessandra Renieri

4 joint publications

Elisa Frullanti

3 joint publications

Julia Hoefele

3 joint publications

Sergio Daga

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