Soraya Leon-Ramiro

Getafe, MD 28905, Spain

Last Updated: 09/26/2026

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Found 10 publications

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.

Whole Exome Sequencing and Panel-Based Analysis in 176 Spanish Children with Neurodevelopmental Disorders: Focus on Autism Spectrum Disorder and/or Intellectual Disability/Global Developmental Delay.

Journal: Genes

Published: September 12, 2024

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Journal: Journal of medical genetics

Published: April 12, 2022

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

Journal: International journal of molecular sciences

Published: March 15, 2022

Novel genes and sex differences in COVID-19 severity.

Novel genes and sex differences in COVID-19 severity.

Journal: Human molecular genetics

Published: February 15, 2022

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.

Journal: Genes

Published: February 25, 2021

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Journal: Heart (British Cardiac Society)

Published: March 18, 2020

Acute rhabdomyolysis in a female heterozygotic carrier of an undescribed mutation in the PNPLA2 gene

Acute rhabdomyolysis in a female heterozygotic carrier of an undescribed mutation in the PNPLA2 gene

Journal: Revista de neurologia

Published: November 26, 2015

Cystinuria in a patient with 19q12q13.1 deletion.

Cystinuria in a patient with 19q12q13.1 deletion.

Journal: CEN case reports

Published: January 13, 2015

A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy

A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy

Journal: Revista de neurologia

Published: May 25, 2013

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.

Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.

Journal: Clinical medicine insights. Pediatrics

Published: January 01, 2012

Showing 1-10 of 10

Last Updated: 09/26/2026