Belen Bohorquez-Garcia
Valencia, VC, Spain
Last Updated: 09/26/2026
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Found 12 publications
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Journal: The Journal of molecular diagnostics : JMD
Published: September 02, 2025
Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Journal: Molecular diagnosis & therapy
Published: July 06, 2025
Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
Journal: Human genomics
Published: February 10, 2025
Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Journal: International journal of neonatal screening
Published: November 28, 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
Journal: Molecular therapy. Nucleic acids
Published: July 11, 2024
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Journal: Scientific reports
Published: August 02, 2021
Usher Syndrome: Genetics of a Human Ciliopathy.
Journal: International journal of molecular sciences
Published: May 31, 2021
Genetics, pathogenesis and therapeutic developments for Usher syndrome type 2.
Journal: Human genetics
Published: April 30, 2021
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Journal: Retina (Philadelphia, Pa.)
Published: January 07, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
Journal: Frontiers in cell and developmental biology
Published: December 23, 2020
Genetic Screening of the Usher Syndrome in Cuba.
Journal: Frontiers in genetics
Published: January 17, 2019
Showing 1-12 of 12
Last Updated: 09/26/2026