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Project Title
Prodromal manifestations of Parkinson´s disease in a high-risk population: 22q11.2 microdeletion syndrome
Partner Organisations
Internal ID
1171014
Principal Investigator
Status
TERMINADO
Start Date
2017
Investigators
Views
6
Last Week
1
1
Last Month
3
3
Acquisition Date
Nov 20, 2024
Nov 20, 2024
14 results
Now showing
1 - 10 of 14
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PublicationRare diseases in Chile: challenges and recommendations in universal health coverage context( 2019)
Scopus© Citations 19 1 -
PublicationContribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome( 2021)
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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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PublicationBarriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations( 2020)
Scopus© Citations 32 16 -
PublicationExome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome( 2022)
Scopus© Citations 1 37 -
PublicationVariance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects( 2018)
Scopus© Citations 30 12 -
PublicationPrevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis( 2021)
Scopus© Citations 9 21 -
PublicationPharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners( 2021)
Scopus© Citations 5 2 -
PublicationUsing common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome( 2020)
Scopus© Citations 71 8 -
PublicationSleep architecture in 22q11.2 microdeletion syndrome patients: polysomnographic study of prodromal signs of Parkinson's Disease and obstructive sleep apnea( 2019)
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