List of works - Emanuela Avola - Paulina

Login with Wikimedia

Login with your Wikimedia account to add/edit data Login

List of works by Emanuela Avola

1-13 of 13 results

View this query on the Wikidata Query Service

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

scientific article published on 13 February 2017

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

scientific article published on 19 June 2017

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

scientific article published on 27 August 2009

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

scientific article published on 26 August 2015

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

scientific article

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

scientific article published in May 2005

Recurrent duplications of 17q12 associated with variable phenotypes.

scientific article published on 30 September 2015

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

article

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

scientific article published on 8 October 2013

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

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

scientific article published on 01 December 2005

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

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

scientific article published on 21 October 2020