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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 98
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PublicationNistagmo secundario a albinismo con compromiso ocular en paciente femenina( 2020)
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PublicationThe WHO genomics program of work for equitable implementation of human genomics for global health( 2024)
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PublicationReverse phenotyping of whole-genome sequencing data from patients with 22q11.2 deletions identifies an extensive catalog of broader phenotypic variability and benign variation in pathogenic disease genes( 2018)
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PublicationCleft Palate, Interdisciplinary Diagnosis, and Treatment( 2015)
Scopus© Citations 5 10 -
PublicationVEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study( 2009)
Scopus© Citations 6 -
PublicationDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile( 2024)
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PublicationAbnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome( 2021)
Scopus© Citations 2 1 -
PublicationChromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS( 2023)
Scopus© Citations 2 4 -
PublicationAlta prevalencia de hernias abdominales en pacientes con síndrome velocardiofacial( 2012)
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