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Lista de obras de Elena Bacchelli

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

scientific article published on 21 January 2021

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

scientific article published on 21 February 2020

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies as a Functionally Relevant Candidate Gene

article

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Brain Magnetic Resonance Findings in 117 Children with Autism Spectrum Disorder under 5 Years Old

artículo científico publicado en 2020

Common and rare variants of microRNA genes in autism spectrum disorders

artículo científico publicado en 2015

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

artículo científico publicado en 2016

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