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Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

artículo científico publicado en 2014

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

artículo científico publicado en 2019

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

scientific article published on 14 January 2020

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

artículo científico publicado en 2015

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

artículo científico publicado en 2019

Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects

artículo científico publicado en 2023

IQSEC2 disorder: a new disease entity or a Rett spectrum continuum?

artículo científico publicado en 2020

L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

scientific article published on 18 June 2019

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

artículo científico publicado en 2015

Molecular characterization of Spanish patients with MECP2 duplication syndrome

scientific article published on 23 February 2020

Molecular diagnosis of coenzyme Q10 deficiency.

artículo científico

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients

artículo científico publicado en 2019

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

artículo científico publicado en 2021

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