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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
Now showing
1 - 10 of 95
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PublicationNistagmo secundario a albinismo con compromiso ocular en paciente femenina( 2020)
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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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PublicationEffect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals( 2015)
Scopus© Citations 12 11 -
PublicationAdvancing diagnosis and research for rare genetic diseases in Indigenous peoples( 2024)
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PublicationGenomic analysis in Chilean pediatric patients with drug-resistant epilepsy( 2023)
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PublicationRare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome( 2017)
Scopus© Citations 71 -
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PublicationGenomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis( 2024)
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