Maria J. Aparisi

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 9 publications

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Journal: Journal of pediatric genetics

Published: June 15, 2020

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab.

Journal: Pediatric neurology

Published: March 09, 2020

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.

Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.

Journal: Ophthalmic genetics

Published: November 23, 2019

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

Journal: PloS one

Published: May 18, 2018

The new challenge in oncology: Next-generation sequencing and its application in precision medicine

The new challenge in oncology: Next-generation sequencing and its application in precision medicine

Journal: Anales de pediatria (Barcelona, Spain : 2003)

Published: May 09, 2016

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Journal: Orphanet journal of rare diseases

Published: May 19, 2014

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Journal: Molecular vision

Published: February 10, 2014

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

Journal: PloS one

Published: December 05, 2012

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Journal: Molecular vision

Published: April 16, 2012

Showing 1-9 of 9

Last Updated: 09/26/2026