Miriam Zacchia

5PUBLICATIONS
7CO-AUTHORS
Neurology and neuromuscular diseasesAnthropological geneticsGenetic immunologyNeurogeneticsReaction kinetics and dynamics
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Publications (5)

|Mar 29, 2023
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.

Miriam Zacchia, Giovanna Capolongo, Francesca Del Vecchio Blanco

|Feb 06, 2023
Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook.

Andrea Melluso, Floriana Secondulfo, Giovanna Capolongo

|Apr 04, 2022
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.

Neha Gupta, Mariavittoria D'Acierno, Enrica Zona

|May 08, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.

Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione

|Apr 28, 2018
Acute and chronic effects of metabolic acidosis on renal function and structure.

Gennaro Tammaro, Miriam Zacchia, Enrica Zona

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