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Lista de obras de Annalisa Buniello

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

artículo científico publicado en 2018

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

An expression atlas of connexin genes in the mouse

artículo científico publicado en 2004

EMBL’s European Bioinformatics Institute (EMBL-EBI) in 2023

artículo científico publicado en 2023

Exploring regulatory networks of miR-96 in the developing inner ear

artículo científico publicado en 2016

Expression and replication studies to identify new candidate genes involved in normal hearing function

artículo científico publicado en 2014

Functional analysis of candidate genes from genome-wide association studies of hearing

artículo científico publicado en 2020

Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness

artículo científico publicado en 2013

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss

artículo científico publicado en 2013

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

article

PLCγ-activated signalling is essential for TrkB mediated sensory neuron structural plasticity

artículo científico publicado en 2010

S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse

artículo científico publicado en 2016

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

artículo científico publicado en 2014

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

artículo científico publicado en 2019

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

Wbp2 is required for normal glutamatergic synapses in the cochlea and is crucial for hearing.

artículo científico publicado en 2016

Workshop proceedings: GWAS summary statistics standards and sharing

artículo científico publicado en 2021

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