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Lista de obras de Emanuela Avola

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

artículo científico publicado en 2009

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

artículo científico publicado en 2017

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

artículo científico publicado en 2005

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

artículo científico publicado en 2013

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

artículo científico publicado en 2014

Recurrent duplications of 17q12 associated with variable phenotypes.

artículo científico publicado en 2015

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

artículo científico publicado en 2005

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

artículo científico publicado en 2015

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