Lista de obras - Mariangela Lo Giudice - Dominio Público Uruguay

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

artículo científico publicado en 2013

A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

article

A novel L1CAM mutation in a fetus detected by prenatal diagnosis

artículo científico publicado en 2009

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

artículo científico publicado en 2008

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex

artículo científico publicado en 2010

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

article

Denaturing HPLC-based assay for detection of ATRX gene mutations.

artículo científico publicado en 2005

Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia

artículo científico publicado en 2004

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

artículo científico publicado en 2018

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

artículo científico publicado en 2003

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.