Nuria Brandi
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 8 publications
Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Journal: Scientific reports
Published: September 08, 2021
Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Journal: Clinical genetics
Published: October 24, 2019
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
Journal: American journal of medical genetics. Part A
Published: May 22, 2019
The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 19, 2018
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.
Journal: Molecular genetics & genomic medicine
Published: August 24, 2018
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Journal: Scientific reports
Published: June 23, 2017
Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.
Journal: PloS one
Published: March 14, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026