Maria K. Glindzicz-Bitner
UCL Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 48 publications
Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
Journal: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
Published: June 26, 2023
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
Journal: EMBO molecular medicine
Published: January 05, 2023
Cumulative risk factors contributing to hearing loss in preterm infants.
Journal: Archives of disease in childhood. Fetal and neonatal edition
Published: April 27, 2022
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution.
Journal: Stem cell reports
Published: March 31, 2022
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Journal: American journal of ophthalmology
Published: September 07, 2021
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.
Journal: Scientific reports
Published: November 15, 2019
Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.
Journal: Human molecular genetics
Published: October 23, 2019
Functional assessment of variants associated with Wolfram syndrome.
Journal: Human molecular genetics
Published: July 06, 2019
Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.
Journal: Human molecular genetics
Published: July 02, 2019
Last Updated: 09/26/2026