Disease: Usher syndrome
- <em>PRPS1</em>-associated retinopathy: a diagnostic odyssey
- A Case Report on Senear-Usher Syndrome
- A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
- A New Mouse Model for Usher Syndrome Crossing Kunming Mice with CBA/J Mice
- A novel compound heterozygous variant of MYO7A in Usher syndrome type 1
- A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome
- Adaptive optics retinal imaging in patients with usher syndrome
- Airway management in infants with Robin sequence in the United Kingdom and Ireland: A prospective population-based study
- Automated Comprehensive CT Assessment of the Risk of Diabetes and Associated Cardiometabolic Conditions
- Balance Control Impairments in Usher Syndrome
- Bioinformatics characterization of variants of uncertain significance in pediatric sensorineural hearing loss
- Biomarkers for diagnosis and prognostication of acute aortic syndromes
- Cardiovascular and Noncardiovascular Prescribing and Mortality After Takotsubo Comparison With Myocardial Infarction and General Population
- Case Report: Pendular Nystagmus Presenting in Usher Syndrome Type I
- CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
- Clinical decision aids and computed tomography coronary angiography in patients with suspected acute coronary syndrome
- 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
- Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK
- Concomitant ulcerative colitis and Usher syndrome in a Pakistani patient: A novel case report
- Correction to: Exploring the support needs of Australian parents of young children with Usher syndrome: a qualitative thematic analysis
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
- Current updates on genetic spectrum of usher syndrome
- Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
- Development and validation of a new algorithm for improved cardiovascular risk prediction
- Diagnosis and management of acute aortic dissection in the emergency department
- Diagnostic accuracy of alternative biomarkers for acute aortic syndrome: a systematic review
- Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases
- Elasticity and Thermal Stability are Key Determinants of Hearing Rescue by Mini-Protocadherin-15 Proteins
- 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
- 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
- Generation of a new mouse model for Usher syndrome crossing Kunming mice with CBA/J mice
- Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant
- 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
- 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
- High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population
- Highly efficient capture approach for the identification of diverse inherited retinal disorders
- 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
- International Systematic Review of Utility Values Associated with Cardiovascular Disease and Reflections on Selecting Evidence for a UK Decision-Analytic Model
- Investigating Splice Defects in <em>USH2A</em> Using Targeted Long-Read Sequencing
- Involvement of Kindlin-1 in cutaneous squamous cell carcinoma
- 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
- Liberal or Restrictive Transfusion Strategy in Patients with Traumatic Brain Injury
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
- Long-term natural history of ellipsoid zone width in <em>USH2A</em>-retinopathy
- Long-Term Outcomes of Cochlear Implantation in Usher Syndrome
- 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
- Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature
- Mild retinitis pigmentosa, including sector retinitis pigmentosa associated with 2 pathogenic variants in <em>CDH23</em>
- Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy
- Multimodal imaging of USH2A rod-cone dystrophy: Case report
- Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants
- Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
- Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes
- Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic <em>USH2A</em>-associated retinopathy
- Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients
- Optical coherence tomography in children with inherited retinal disease
- Otolith function in Usher type II syndrome
- 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
- 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
- Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening
- Psychotropic prescribing after hospital discharge in survivors of critical illness, a retrospective cohort study (2012-2019)
- Rapid Acute Coronary Syndrome Evaluation Over One Hour With High-Sensitivity Cardiac Troponin I: A United States-Based Stepped-Wedge, Randomized Trial
- Retinitis Pigmentosa
- Risk Factors for Poor Outcomes in Children Hospitalized With Virus-associated Acute Lower Respiratory Infections: A Systematic Review and Meta-analysis
- Risk factors for respiratory syncytial virus-associated acute lower respiratory infection in children under 5 years: An updated systematic review and meta-analysis
- Risk factors for respiratory syncytial virus-associated acute lower respiratory infection in children under five years: An updated 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
- Risk scores and coronary artery disease in patients with suspected acute coronary syndrome and intermediate cardiac troponin concentrations
- Safety outcomes following COVID-19 vaccination and infection in 5.1 million children in England
- Screening copy number variations in 35 unsolved inherited retinal disease families
- Sedentary lifestyle, physical activity, and gastrointestinal diseases: evidence from mendelian randomization analysis
- Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire
- Senear-Usher syndrome in a 5-year-old girl
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
- Syndromic Retinitis Pigmentosa: A 15-Patient Study
- The 4AT, a rapid delirium detection tool for use in hospice inpatient units: Findings from a validation study
- The global and regional prevalence of restless legs syndrome among adults: A systematic review and modelling analysis
- 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
- 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
- Uptake of COVID-19 vaccinations amongst 3,433,483 children and young people: meta-analysis of UK prospective cohorts
- Usher syndrome in the United Arab Emirates
- Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene
- Vestibular Impairment and Postural Development in Children With Bilateral Profound Hearing Loss
- Vestibulo-ocular reflex dynamics with head-impulses discriminates Usher patients type 1 and 2
- Zebrafish <em>myo7aa</em> affects congenital hearing by regulating Rho-GTPase signaling