Sonia Mayo
0000-0002-5465-7783
34 papers found
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NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants
Noninvasive prenatal testing: How far can we reach detecting fetal copy number variations
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
Letter to the Editor: Breastfeeding and COVID-19 Vaccine: Yes We Can
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield
[Infantile epileptic encephalopathy: a good genetic study should be a priority].
Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability
Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Modulation of copper deficiency responses by diurnal and circadian rhythms inArabidopsis thaliana
Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder
Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome
In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients
Phenotype profiling of patients with intellectual disability and copy number variations
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