Disease: Mohr syndrome
- A cardiovascular magnetic resonance imaging-based pilot study to assess coronary microvascular disease in COVID-19 patients
- A case of oro-facial digital syndrome
- A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
- A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
- Accumulation of mutations in antibody and CD8 T cell epitopes in a B cell depleted lymphoma patient with chronic SARS-CoV-2 infection
- ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
- Acute Bulbar Palsy and Ophtalmoplegia Associated With Anti-GT1a IgG Antibodies
- Acute pancreatitis during long-term peritoneal dialysis management associated with the OFD-1 mutation
- African-Lineage Zika Virus Replication Dynamics and Maternal-Fetal Interface Infection in Pregnant Rhesus Macaques
- An extremely rare case of Oro-facial digital syndrome: A case report
- Association between cannabis use and symptom dimensions in schizophrenia spectrum disorders: an individual participant data meta-analysis on 3053 individuals
- Association between IgG responses against the nucleocapsid proteins of alphacoronaviruses and COVID-19 severity
- Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome
- Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
- Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
- Biomarker Evidence of the Persistent Inflammation, Immunosuppression and Catabolism Syndrome (PICS) in Chronic Critical Illness (CCI) After Surgical Sepsis
- Call, chosen, HA<sub>2</sub>T<sub>2</sub>, ANDC: validation of four severity scores in COVID-19 patients
- Camrelizumab plus rivoceranib versus sorafenib as first-line therapy for unresectable hepatocellular carcinoma (CARES-310): a randomised, open-label, international phase 3 study
- Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk
- Changing Severity and Epidemiology of Adults Hospitalized With Coronavirus Disease 2019 (COVID-19) in the United States After Introduction of COVID-19 Vaccines, March 2021-August 2022
- Cognitive Impairment and Metabolite Profile Alterations in the Hippocampus and Cortex of Male and Female Mice Exposed to a Fat and Sugar-Rich Diet are Normalized by Diet Reversal
- Comparison of characteristics, predictors and outcomes between the first and second COVID-19 waves in a tertiary care centre in Switzerland: an observational analysis
- Comparison of five diagnostic flow cytometry scores in patients with myelodysplastic syndromes: Diagnostic power and prognostic impact
- Comparison of test-negative and syndrome-negative controls in SARS-CoV-2 vaccine effectiveness evaluations for preventing COVID-19 hospitalizations in the United States
- Control of maternal Zika virus infection during pregnancy is associated with lower antibody titers in a macaque model
- CT findings in "Post-Covid": residua from acute pneumonia or "Post-Covid-ILD"?
- Deaths with COVID-19 and from all-causes following first-ever SARS-CoV-2 infection in individuals with preexisting mental disorders: A national cohort study from Czechia
- Delivery timing for the opioid-exposed infant
- Depressive Symptoms and PANSS Symptom Dimensions in Patients With Predominant Negative Symptom Schizophrenia: A Network Analysis
- Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
- Disentangling the symptoms of schizophrenia: Network analysis in acute phase patients and in patients with predominant negative symptoms
- Early Convalescent Plasma for High-Risk Outpatients with Covid-19
- Effect of prehospital high-dose glucocorticoid on hemodynamics in patients resuscitated from out-of-hospital cardiac arrest: a sub-study of the STEROHCA trial
- Effectiveness of a Messenger RNA Vaccine Booster Dose Against Coronavirus Disease 2019 Among US Healthcare Personnel, October 2021-July 2022
- Effectiveness of mRNA Covid-19 Vaccine among U.S. Health Care Personnel
- Effectiveness of Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccines for Preventing Coronavirus Disease 2019 Hospitalizations in the United States
- Effects of COVID-19 Lockdown on Weight, Body Composition, and Behavior of Children, Adolescents, and Young Adults with Prader-Willi Syndrome
- Effects of Rapamycin on the Expression of Redox Enzymes in Aortic Vascular Smooth Muscle Cells from Marfan Syndrome Mice
- Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes
- Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
- Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in Breast Cancer Tumorigenesis
- Gender differences in cardiometabolic health and disease in a cross-sectional observational obesity study
- Geoeconomic variations in epidemiology, ventilation management, and outcomes in invasively ventilated intensive care unit patients without acute respiratory distress syndrome: a pooled analysis of four observational studies
- Half Century Since SIDS: A Reappraisal of Terminology
- Health Care Workers' Sick Leave due to COVID-19 Vaccination in Context With SARS-CoV-2 Infection and Quarantine-A Multicenter Cross-Sectional Survey
- Human immune globulin treatment controls Zika viremia in pregnant rhesus macaques
- Identification and analysis of deletion breakpoints in four Mohr-Tranebjaerg syndrome (MTS) patients
- Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
- Influence of psychopathology and metabolic parameters on quality of life in patients with first-episode psychosis before and after initial antipsychotic treatment
- INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
- INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder
- Intubation Decision Based on Illness Severity and Mortality in COVID-19: An International Study
- Investigating the impact of COVID-19 lockdown on adults with a recent history of recurrent major depressive disorder: a multi-Centre study using remote measurement technology
- KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant
- LMO3 reprograms visceral adipocyte metabolism during obesity
- Low Tidal Volume Ventilation for Emergency Department Patients: A Systematic Review and Meta-Analysis on Practice Patterns and Clinical Impact
- Mechanical Ventilation Practices and Low Tidal Volume Ventilation in Air Medical Transport Patients: The AIR-VENT Study
- Microbiome and metabolome profiles of high screen time in a cohort of healthy college students
- MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
- mRNA Vaccine Effectiveness Against Coronavirus Disease 2019 Hospitalization Among Solid Organ Transplant Recipients
- Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
- New-onset atrial fibrillation and chronic coronary syndrome in the CLARIFY registry
- Non-covalent SARS-CoV-2 M<sup>pro</sup> inhibitors developed from in silico screen hits
- Non-syndromic generalised hypotaurodontism in a case of Stage III Grade C periodontitis
- Novel Surgical Technique for Correction of Incomplete Median Cleft Lip Deformity in Oral-Facial-Digital Syndrome Type II
- Oral-facial-digital syndrome type 1: the kidney cystic disease that mimics autosomal dominant polycystic kidney disease
- Oro-facial-digital syndrome type 1 and neuronal migration disorders
- Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome
- Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1
- Performance characteristics of two real-time TaqMan polymerase chain reaction assays for the detection of WSSV in clinically diseased and apparently healthy prawns
- Persistent capillary rarefication in long COVID syndrome
- Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome
- Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
- Phototherapeutic keratectomy for recurrent corneal erosion of various epithelial origins: influence of depth of ablation on pachymetry and refraction
- Platelets contribute to disease severity in COVID-19
- Post-stroke Depressive Symptoms and Cognitive Performances: A Network Analysis
- Pre-Hospital Administration of Remdesivir During a Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Outbreak in a Skilled Nursing Facility
- Preclinical evidence of the anti-inflammatory effect and toxicological safety of aryl-cyclohexanone in vivo
- Predictors of congruency between clinical and radiographic Oxfordshire Community Stroke Project Classification subtypes
- Prehospital high-dose methylprednisolone in resuscitated out-of-hospital cardiac arrest patients (STEROHCA): a randomized clinical trial
- Prevalence of Unfavorable Video-Urodynamic Findings and Clinical Implications in Patients with Minimally Conscious State/Unresponsive Wakefulness Syndrome: A Retrospective Descriptive Analysis
- Ratio of Urinary Proteins to Albumin Excretion Shifts Substantially during Progression of the Podocytopathy Alport Syndrome, and Spot Urine Is a Reliable Method to Detect These Pathologic Changes
- Risk Factors in HIV-1 Positive Patients on the Intensive Care Unit: A Single Center Experience from a Tertiary Care Hospital
- Sex-Specific Hip Movement Is Correlated With Pelvis and Upper Body Rotation During Running
- Short-term high fat diet alters genes associated with metabolic and vascular dysfunction during adolescence in rats: a pilot study
- Short-term rapamycin treatment increases life span and attenuates aortic aneurysm in a murine model of Marfan-Syndrome
- Sustained Impairment in Cardiopulmonary Exercise Capacity Testing in Patients after COVID-19: A Single Center Experience
- T cell maturation is significantly affected by SARS-CoV-2 infection
- The alternative serotonin transporter promoter P2 impacts gene function in females with irritable bowel syndrome
- The National Cancer Database: Survival Between Head and Neck Melanoma and Melanoma of Other Regions
- The Persistent Inflammation, Immunosuppression, and Catabolism Syndrome (PICS) Ten Years Later
- The persistent inflammation, immunosuppression, and catabolism syndrome 10 years later
- The relationship between peripheral immune response and disease severity in SARS-CoV-2-infected subjects: A cross-sectional study
- Total and Subgenomic RNA Viral Load in Patients Infected With SARS-CoV-2 Alpha, Delta, and Omicron Variants
- Unraveling the Genetic Tapestry: A Case Report on Oro-Facial-Digital Syndrome's Rare Features Across Generations in a Familial Trilogy
- Vaccine Effectiveness Against Influenza A-Associated Hospitalization, Organ Failure, and Death: United States, 2022-2023
- Validation and utility of ARDS subphenotypes identified by machine-learning models using clinical data: an observational, multicohort, retrospective analysis
- Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome by inducing primary cilia abnormality
- Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality
- Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome