List of works by Mirella Vinci

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report

scientific article published on 01 August 2020

Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients

scientific article published on 12 April 2013

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

article

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

scientific article

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

scientific article published on 26 December 2014

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response

scientific article

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

scientific article published on 19 June 2017

Intragenic ILRAPL1 deletion in a male patient with intellectual disability, mild dysmorphic signs, deafness, and behavioral problems

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome

scientific article

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

scientific article published on 13 February 2017

Paulina is supported by:

About Paulina

Help