Disease: Usher syndrome
- <em>PRPS1</em>-associated retinopathy: a diagnostic odyssey
- <em>USH2A</em> variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
- A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases
- A multi-country analysis of COVID-19 hospitalizations by vaccination status
- A Recalcitrant Case of Senear-Usher Syndrome Treated With Rituximab
- Adaptive optics imaging in inherited retinal diseases: A scoping review of the clinical literature
- Advances on gene therapy for USH2A exon 13 related inherited retinal dystrophy
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients
- Autosomal dominant non-syndromic hearing loss caused by a novel mutation in <em>MYO7A</em>: A case report and review of the literature
- Bibliometric analysis of scientific publications on cryptorchidism: Research hotspots and trends between 2000 and 2022
- Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss
- Biomarkers for diagnosis and prognostication of acute aortic syndromes
- Carriers of autosomal recessive conditions: are they really 'unaffected?'
- Case Report: Pendular Nystagmus Presenting in Usher Syndrome Type I
- Cauda equina syndrome
- Clinical Presentation of Usher Syndrome Type 1B (USH1B) in a 10-Month-Old: A Case Report
- Co-occurring Usher syndrome Type 1 and Renal Failure
- Coated sodium butyrate ameliorates high-energy and low-protein diet induced hepatic dysfunction via modulating mitochondrial dynamics, autophagy and apoptosis in laying hens
- Cochlear Implantation in Children with Additional Disabilities: A Systematic Review
- Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss
- Comparing Research Priority-Setting Partnerships for Older Adults Across International Health Care Systems: A Systematic Review
- Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
- Development and validation of a new algorithm for improved cardiovascular risk prediction
- Diagnosis of Acute Aortic Syndrome in the Emergency Department (DAShED) study: an observational cohort study of people attending the emergency department with symptoms consistent with acute aortic syndrome
- Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
- Dual AAV based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
- Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F
- Dual-AAV vector-mediated expression of <em>MYO7A</em> improves vestibular function in a mouse model of Usher syndrome 1B
- Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B
- Early Computed Tomography Coronary Angiography and Preventative Treatment in Patients with Suspected Acute Coronary Syndrome A secondary analysis of the RAPID-CTCA trial
- Early computed tomography coronary angiography and preventative treatment in patients with suspected acute coronary syndrome: A secondary analysis of the RAPID-CTCA trial
- Evaluation of feasibility phase of adaptive version of locally made bubble continuous positive airway pressure oxygen therapy for the treatment of COVID-19 positive and negative adults with severe pneumonia and hypoxaemia
- Expanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations
- Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
- Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization
- Extended time frame for restoring inner ear function through gene therapy in Usher1G preclinical model
- Extended timeframe for restoring inner ear function through gene therapy in Usher1G preclinical model
- Functional Vision in Patients with Bi-allelic USH2A Variants
- Functional Vision in Patients With Biallelic USH2A Variants
- Gene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections
- Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children
- Genetic diagnosis of childhood sensorineural hearing loss
- Genetic profile of syndromic retinitis pigmentosa in Portugal
- Genetically Engineered Cellular Nanovesicle as Targeted DNase I Delivery System for the Clearance of Neutrophil Extracellular Traps in Acute Lung Injury
- Global Burden of Cardiovascular Diseases and Risks, 1990-2022
- Global disease burden of and risk factors for acute lower respiratory infections caused by respiratory syncytial virus in preterm infants and young children in 2019: a systematic review and meta-analysis of aggregated and individual participant data
- Global health economics: The Equitable Impact Sensitive Tool (EQUIST) - development, validation, implementation and evaluation of impact (2011 to 2022)
- Hearing Loss with Vision Impairment: Usher Syndrome. A Case of the East Democratic Republic of Congo
- Highly efficient capture approach for the identification of diverse inherited retinal disorders
- Identification of a novel compound heterozygous pathogenic variant in <em>MYO7A</em> causing Usher syndrome type IB in a Chinese patient: a case report
- Identification of a novel compound heterozygous pathogenic variant in MYO7A causing Usher syndrome type IB in a Chinese patient: a case report
- IgM N-glycosylation correlates with COVID-19 severity and rate of complement deposition
- Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial
- Implementation of a high sensitivity cardiac troponin I assay and risk of myocardial infarction or death at five years: observational analysis of a stepped wedge, cluster randomised controlled trial
- International Systematic Review of Utility Values Associated with Cardiovascular Disease and Reflections on Selecting Evidence for a UK Decision-Analytic Model
- Is rapid acute coronary syndrome evaluation with high-sensitivity cardiac troponin less costly? An economic evaluation
- Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
- Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndrome
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
- Machine Learning for Myocardial Infarction Compared With Guideline-Recommended Diagnostic Pathways
- Menstrual and psychosocial characteristics associated with high-risk of premenstrual dysphoric disorder among university students: a cross-sectional study
- Mental health in the COVID-19 pandemic: A longitudinal analysis of the CLoCk cohort study
- Meta-Analyses of Genome-Wide Association Studies for Postpartum Depression
- Molecular regulatory mechanism of human myosin-7a
- Multimodal photoacoustic microscopy, optical coherence tomography, and fluorescence imaging of USH2A knockout rabbits
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes
- Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family
- Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic <em>USH2A</em>-associated retinopathy
- Optical coherence tomography in children with inherited retinal disease
- Outcomes of cochlear implantation in Usher syndrome: a systematic review
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions
- Pathogenic Variants in <em>USH1G</em>/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome
- Pathophysiology of human hearing loss associated with variants in myosins
- PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F
- Persistent symptoms are associated with long term effects of COVID-19 among children and young people: Results from a systematic review and meta-analysis of controlled studies
- Post-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury
- Predictors of incomplete COVID-19 vaccine schedule among adults in Scotland: Two retrospective cohort analyses of the primary schedule and third dose
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening
- Prevalence of inherited retinal diseases in a large Egyptian cohort
- Recent advances in the application of induced pluripotent stem cell technology to the study of myeloid malignancies
- Risk Factors for Poor Outcomes in Children Hospitalized With Virus-associated Acute Lower Respiratory Infections: A Systematic Review and Meta-analysis
- Risk of COVID-19 death in adults who received booster COVID-19 vaccinations in England
- Risk of severe COVID-19 outcomes after autumn 2022 COVID-19 booster vaccinations: a pooled analysis of national prospective cohort studies involving 7.4 million adults in England, Northern Ireland, Scotland and Wales
- SARS-CoV-2 infection following booster vaccination: Illness and symptom profile in a prospective, observational community-based case-control study
- Screening copy number variations in 35 unsolved inherited retinal disease families
- Sedentary lifestyle, physical activity, and gastrointestinal diseases: evidence from mendelian randomization analysis
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
- Syndromic Retinitis Pigmentosa: A 15-Patient Study
- The effects of ush2a gene knockout on vesicle transport in photoreceptors
- The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes
- The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
- The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors
- Third-generation lentiviral gene therapy rescues function in a mouse model of Usher 1B
- Trade-offs between overall survival and side effects in the treatment of metastatic breast cancer: eliciting preferences of patients with primary and metastatic breast cancer using a discrete choice experiment
- True prevalence of long-COVID in a nationwide, population cohort study
- Uptake of COVID-19 vaccinations amongst 3,433,483 children and young people: meta-analysis of UK prospective cohorts
- USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2
- Which Came First? When Usher Syndrome Type 1 Couples with Neuropsychiatric Disorders