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REPETTO LISBOA, MARIA GABRIELA
Preferred name
REPETTO LISBOA, MARIA GABRIELA
Main Affiliation
Email
grepetto@udd.cl
ORCID
Scopus Author ID
57198456305
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1 - 9 of 9
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PublicationPathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function( 2024)
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PublicationSource‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome( 2024)
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PublicationDiscovery of novel genetic syndromes in Latin America: Opportunities and challenges( 2024)
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PublicationChallenges for gene therapy in the financial sustainability of health systems: a scoping review( 2024)
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PublicationDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile( 2024)
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PublicationThe WHO genomics program of work for equitable implementation of human genomics for global health( 2024)
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PublicationRobust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study( 2024)
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PublicationAdvancing diagnosis and research for rare genetic diseases in Indigenous peoples( 2024)
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PublicationGenomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis( 2024)
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