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Project Title
Identifying Genetic Modifiers of Clinical Severity in Chilean Patients with Inheritable Connective Tissue Disordes Through Genotype-Phenotype Correlations And Whole Exome Sequencing
Partner Organisations
Internal ID
11170353
Principal Investigator
Status
TERMINADO
Start Date
2017
Views
20
Last Month
4
4
Acquisition Date
Nov 20, 2024
Nov 20, 2024
8 results
Now showing
1 - 8 of 8
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PublicationLineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome( 2019)
Scopus© Citations 71 35 -
PublicationRare diseases in Chile: challenges and recommendations in universal health coverage context( 2019)
Scopus© Citations 19 1 -
PublicationExome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome( 2022)
Scopus© Citations 1 37 -
Publication
Scopus© Citations 9 -
PublicationExtracellular Cysteines Are Critical to Form Functional Cx46 Hemichannels( 2022)
Scopus© Citations 4 15 -
PublicationGenetics of spontaneous cervical and coronary artery dissections( 2023)
Scopus© Citations 3 14 -
PublicationCRISPR/Cas13-Based Platforms for a Potential Next-Generation Diagnosis of Colorectal Cancer through Exosomes Micro-RNA Detection: A Review( 2021)
Scopus© Citations 11 7 -
Publication
Scopus© Citations 44 4