RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry

Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis [...]

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Publication Details

Published
2025-07-14
DOI
https://doi.org/10.3390/proceedings2025120008
Primary Topic
Genomics and Rare Diseases
Type
article
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RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry

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Genomics and Rare Diseases
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RarE Neuropediatric Diseases Electronic Registry (RENDER): Toward a Unified, High-Resolution Disease Registry

Domenico Coviello, Donatella Milani, Alessandro Simonati, Lidia Pezzani, Romina Romaniello, Caterina Galandra, Vincenzo Leuzzi, Riccardo Bellazzi, Davide Politano, Serena Galosi, Matteo Terzaghi, Enza Maria Valente, Renato Borgatti, Ludovica Pasca
article en

Abstract

Neuropediatric rare diseases comprise a huge spectrum of clinically heterogeneous conditions, often recognizing a genetic basis [...]

University of Verona (IT), University of Pavia (IT), Istituto Giannina Gaslini (IT), Foundation Center (US), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), Istituti Clinici Scientifici Maugeri (IT), Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT), Urology Foundation (GB), Ospedale Papa Giovanni XXIII (IT), Sapienza University of Rome (IT)
Openalex Percentile: Top 80%
Genomics and Rare Diseases
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