Bruno Della-Ripa
3PUBLICATIONS
7CO-AUTHORS
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Publications (3)
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|Nov 28, 2024
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.Eleanor Broeren, Vanessa Gitau, Alicia Byrne
|Sep 30, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.Fernando Freua, Mariana Espíndola de Castro Almeida, Paulo Ribeiro Nóbrega
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