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List of works by Aida M Bertoli-Avella

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population

scientific article

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

scientific article published on 28 January 2022

ADAMTS19 associated heart valve defects: novel genetic variants consolidating a recognizable cardiac phenotype

scientific article published on 23 April 2020

An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

scientific article published on 01 November 2020

Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy

scientific article published on 22 December 2020

Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands

article

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

scientific article published on 05 October 2020

Linkage disequilibrium in young genetically isolated Dutch population

article

Novel parkin mutations detected in patients with early-onset Parkinson's disease

scientific article published in April 2005

Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function

scientific article published in August 2007

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

scientific article published on 28 August 2020

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