Lista de obras - Ornella Galesi - Dominio Público Uruguay

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

artículo científico publicado en 2007

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

artículo científico publicado en 2006

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

artículo científico

A t(4;9)(q34;p22) translocation associated with partial epilepsy, mental retardation, and dysmorphism

artículo científico publicado en 2005

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

artículo científico publicado en 2019

Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation

artículo científico publicado en 2008

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome

artículo científico publicado en 2012

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

article

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome

artículo científico publicado en 2003

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.