• A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction
• A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophy
• Acute respiratory infections among returning Hajj pilgrims-Jordan, 2014
• Age, Inflammation, and Disease Location Are Critical Determinants of Intestinal Expression of SARS-CoV-2 Receptor <em>ACE2</em> and <em>TMPRSS2</em> in Inflammatory Bowel Disease
• Are ankylosing spondylitis, psoriatic arthritis and undifferentiated spondyloarthritis associated with an increased risk of cardiovascular events? A prospective nationwide population-based cohort study
• Assessment of the FilmArray ME panel in 4199 consecutively tested cerebrospinal fluid samples
• Association Between Genetic Predictors for C-Reactive Protein and Venous Thromboembolism With Severe Adverse Coronavirus Disease 2019 Outcomes
• Association between genetically predicted polycystic ovary syndrome and ovarian cancer: a Mendelian randomization study
• Cerebrospinal fluid viral load and biomarkers of neuronal and glial cells in Ramsay Hunt syndrome
• Chronic Diseases and Employment: Which Interventions Support the Maintenance of Work and Return to Work among Workers with Chronic Illnesses? A Systematic Review
• Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
• Correction to: The landscape of epilepsy-related GATOR1 variants
• Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
• Correction: The landscape of epilepsy-related GATOR1 variants
• De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
• De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
• De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
• De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
• De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
• De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
• De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
• De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
• Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
• Demographic, clinical, and epidemiologic characteristics of persons under investigation for Coronavirus Disease 2019-United States, January 17-February 29, 2020
• Diagnosis of veno-occlusive disease/sinusoidal obstruction syndrome of the liver: problems of interpretation
• Disease consequences of higher adiposity uncoupled from its adverse metabolic effects using Mendelian randomisation
• Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
• Eating Competence Is Associated with Lower Prevalence of Obesity and Better Insulin Sensitivity in Finnish Adults with Increased Risk for Type 2 Diabetes: The StopDia Study
• Effects of odevixibat on pruritus and bile acids in children with cholestatic liver disease: Phase 2 study
• Efficacy and safety of olorinab, a full agonist of the cannabinoid receptor 2, for the treatment of abdominal pain in patients with irritable bowel syndrome: Results from a phase 2b randomized placebo-controlled trial (CAPTIVATE)
• Enhanced contact investigations for nine early travel-related cases of SARS-CoV-2 in the United States
• Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
• Estimated Global Proportions of Individuals With Persistent Fatigue, Cognitive, and Respiratory Symptom Clusters Following Symptomatic COVID-19 in 2020 and 2021
• Estimating glomerular filtration rate (GFR) in children. The average between a cystatin C- and a creatinine-based equation improves estimation of GFR in both children and adults and enables diagnosing Shrunken Pore Syndrome
• Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
• Fasting serum hippuric acid is elevated after bilberry (Vaccinium myrtillus) consumption and associates with improvement of fasting glucose levels and insulin secretion in persons at high risk of developing type 2 diabetes
• First known person-to-person transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in the USA
• First Mildly Ill, Nonhospitalized Case of Coronavirus Disease 2019 (COVID-19) Without Viral Transmission in the United States-Maricopa County, Arizona, 2020
• First-line venetoclax combinations versus chemoimmunotherapy in fit patients with chronic lymphocytic leukaemia (GAIA/CLL13): 4-year follow-up from a multicentre, open-label, randomised, phase 3 trial
• From reaction kinetics to dementia: A simple dimer model of Alzheimer's disease etiology
• Gambling addiction as a side effect of low dose pramipexole in the treatment of restless legs syndrome
• Global Burden of Cardiovascular Diseases and Risks, 1990-2022
• Gluten and fructan intake and their associations with gastrointestinal symptoms in irritable bowel syndrome: A food diary study
• High-frequency temperature monitoring for early detection of febrile adverse events in patients with cancer
• Human Adenovirus 11 in 2 Renal Transplant Recipients: Suspected Donor-Derived Infection
• Identification of candidate cerebrospinal fluid biomarkers in parkinsonism using quantitative proteomics
• Identifying quality indicators for prehospital emergency care services in the low to middle income setting: The South African perspective
• Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome
• Incident Gout and Risk of First-Time Acute Coronary Syndrome: A Prospective, Population-Based Cohort Study in Sweden
• Intubation Decision Based on Illness Severity and Mortality in COVID-19: An International Study
• Investigation and Serologic Follow-Up of Contacts of an Early Confirmed Case-Patient with COVID-19, Washington, USA
• Is kidney biopsy necessary in children with idiopathic nephrotic syndrome?
• Isolation and characterization of SARS-CoV-2 from the first US COVID-19 patient
• Maternal and Perinatal Outcomes in Singleton Nulliparous Spontaneous Preterm Birth with and without Preterm Premature Rupture of Membranes-A National Population-Based Cohort Study
• Maternal cytomegalovirus infection and delayed language development in children at 3 years of age-a nested case-control study in a large population-based pregnancy cohort
• Middle East Respiratory Syndrome Coronavirus, Saudi Arabia, 2017-2018
• Modeling COVID-19 scenarios for the United States
• Neuronal nicotinic acetylcholine receptor antibodies in autoimmune central nervous system disorders
• Olorinab (APD371), a peripherally acting, highly selective, full agonist of the cannabinoid receptor 2, reduces colitis-induced acute and chronic visceral hypersensitivity in rodents
• Optimal cut-off for obesity and markers of metabolic syndrome for Ethiopian adults
• p53 at the crossroad of DNA replication and ribosome biogenesis stress pathways
• Pathogenic variants in <em>SMARCA5</em>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
• Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features
• Performance of Oropharyngeal Swab Testing Compared With Nasopharyngeal Swab Testing for Diagnosis of Coronavirus Disease 2019-United States, January 2020-February 2020
• Persons with psychosis perceptions of participating in a lifestyle intervention
• Pharmacological modulation of colorectal distension evoked potentials in conscious rats
• Plasma diacylglycerol composition is a biomarker of metabolic syndrome onset in rhesus monkeys
• Polycystic ovary syndrome and risk of pre-eclampsia: A national register-based cohort study
• Polycystic ovary syndrome and risk of stillbirth: a nationwide register-based study
• Presymptomatic SARS-CoV-2 Infections and Transmission in a Skilled Nursing Facility
• Prevalence and incidence rate of lower-extremity tendinopathies in a Danish general practice: a registry-based study
• Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
• Rapid single-molecule digital detection of protein biomarkers for continuous monitoring of systemic immune disorders
• Reduction in glomerular pore size is not restricted to pregnant women. Evidence for a new syndrome: 'Shrunken pore syndrome'
• Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study
• Role of ribosomal protein mutations in tumor development (Review)
• Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation
• SARS-CoV-2 Infections among Recent Organ Recipients, March-May 2020, United States
• Severe Acute Respiratory Syndrome Coronavirus 2 from Patient with Coronavirus Disease, United States
• Severe Acute Respiratory Syndrome Coronavirus 2 Prevalence, Seroprevalence, and Exposure among Evacuees from Wuhan, China, 2020
• Shedding of Culturable Virus, Seroconversion, and 6-Month Follow-up Antibody Responses in the First 14 Confirmed Cases of Coronavirus Disease 2019 in the United States
• Shrunken pore syndrome and mortality: a cohort study of patients with measured GFR and known comorbidities
• Shrunken Pore Syndrome Is Associated With Increased Levels of Atherosclerosis-Promoting Proteins
• Sociodemographic and lifestyle-related risk factors for identifying vulnerable groups for type 2 diabetes: a narrative review with emphasis on data from Europe
• Soluble Urokinase Plasminogen Activator Receptor as a Decision Marker for Early Discharge of Patients with COVID-19 Symptoms in the Emergency Department
• SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
• Speech and Language in 5-year-olds with Different Neurological Disabilities and the Association between Early and Later Consonant Production
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
• Sympathetic innervation of human muscle spindles
• TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
• The complexity of kidney disease and diagnosing it - cystatin C, selective glomerular hypofiltration syndromes and proteome regulation
• The Impact of Stent Graft Material on the Inflammatory Response After EVAR
• The landscape of epilepsy-related GATOR1 variants
• Treatment of Urethral Pain Syndrome (UPS) in Sweden
• Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
• Urethral instillations of clobetasol propionate and lidocaine: a promising treatment of urethral pain syndrome
• US CDC Real-Time Reverse Transcription PCR Panel for Detection of Severe Acute Respiratory Syndrome Coronavirus 2
• Walking on treadmill with Rett syndrome-Effects on the autonomic nervous system
• Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
• You eat what you are: personality-dependent filial cannibalism in a fish with paternal care