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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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PublicationSource‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome( 2024)
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PublicationPractical guidelines for managing adults with 22q11.2 deletion syndrome( 2015)
Scopus© Citations 207 6 -
PublicationPathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function( 2024)
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PublicationSomatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome( 2019)
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PublicationRare diseases in Chile: challenges and recommendations in universal health coverage context( 2019)
Scopus© Citations 19 1 -
PublicationVEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study( 2009)
Scopus© Citations 6 -
PublicationRare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome( 2017)
Scopus© Citations 71 -
PublicationCystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations( 2011)
Scopus© Citations 19 3