• "Metabolically Healthy" Obesity and Hyperuricemia Increase Risk for Hypertension and Diabetes: 5-year Japanese Cohort Study
• 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European
• A case of Bjornstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene
• A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION
• A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
• A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Bjornstad syndrome: A case report
• A practical, algorithmic approach to diagnosing hair shaft disorders
• Age-related consequences of childhood obesity
• Alopecia and hearing loss in a boy
• Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic kidney alarm (DKA) study
• Anthropogenically driven environmental changes shift the ecological dynamics of hemorrhagic fever with renal syndrome
• Association of Early Steroid Administration With Outcomes of Children Hospitalized for COVID-19 Without Multisystem Inflammatory Syndrome in Children
• Asymptomatic hyperuricaemia: a silent activator of the innate immune system
• Bjornstad syndrome
• Bjornstad syndrome
• Bjornstad syndrome and pili torti
• Bjornstad syndrome in a patient with mental retardation
• Catheter-based closure of a perimembranous ventricular septal defect using the Amplatzer occluder in a patient with right-sided heart and mirror-imaged arrangements of all organs
• Catheter-based closure of an atrial septal defect in scimitar syndrome
• Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency
• Cerebellar leukoencephalopathy: most likely histiocytosis-related
• Characteristics of circulatory failure after out-of-hospital cardiac arrest: a prospective cohort study
• Characterization and Outcomes of Hospitalized Children With Coronavirus Disease 2019: A Report From a Multicenter, Viral Infection and Respiratory Illness Universal Study (Coronavirus Disease 2019) Registry
• Circulatory trajectories after out-of-hospital cardiac arrest: a prospective cohort study
• Clinical and biochemical features associated with BCS1L mutation
• Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient
• Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships
• Cochlear implantation in Bjornstad syndrome: a case series with literature review
• Coronavirus Disease 2019-Associated PICU Admissions: A Report From the Society of Critical Care Medicine Discovery Network Viral Infection and Respiratory Illness Universal Study Registry
• Differing lung function development in infants with univentricular hearts compared with healthy infants
• Early combination therapy with immunoglobulin and steroids is associated with shorter ICU length of stay in Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19: A retrospective cohort analysis from 28 U.S. Hospitals
• Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy
• Electrocardiographic findings of repolarization in athletic students and control subjects
• Erythema Nodosum and Fevers
• Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis
• Ezetimibe Added to Statin Therapy after Acute Coronary Syndromes
• Fat storage syndrome in Pacific peoples: a combination of environment and genetics?
• Fructose tolerance test in obese people with and without type 2 diabetes
• Fructose: A New Variable to Consider in SIADH and the Hyponatremia Associated With Long-Distance Running?
• Gastrointestinal Manifestations in Hospitalized Children With Acute SARS-CoV-2 Infection and Multisystem Inflammatory Condition: An Analysis of the VIRUS COVID-19 Registry
• Hemodynamic results of surgery for congenital supravalvular aortic stenoses (author's transl)
• Hypoplastic left heart syndrome. Present experiences and future possibilities
• Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
• Immunological characteristics govern the transition of COVID-19 to endemicity
• Implications of spatially heterogeneous vaccination coverage for the risk of congenital rubella syndrome in South Africa
• Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient
• Ketogenic diet for treating alopecia in BCS1l-related mitochondrial disease (Bjornstad syndrome)
• Kidney implications of SARS-CoV2 infection in children
• KISS--the explanation of many complaints in children?
• Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
• Minimal Change Disease Is Associated With Endothelial Glycocalyx Degradation and Endothelial Activation
• Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome
• Missense mutations in the BCS1L gene in Bjornstad syndrome
• Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease
• Morphological analyses in fragility of pili torti with Bjornstad syndrome
• Multivariate statistical analyses demonstrate unique host immune responses to single and dual lentiviral infection
• Norwegian translation of assessment tool for alcohol withdrawal
• Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
• Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Bjornstad syndrome
• Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
• Paroxysmal sleep as a presenting symptom of bilateral paramedian thalamic infarctions
• Pathogenesis of Lipid Disorders in Insulin Resistance: a Brief Review
• Pili torti and sensorineural hearing loss. A follow-up of Bjørnstad's original patients and a review of the literature
• Pili torti with congenital deafness (Bjornstad syndrome): a case report
• Pili torti with congenital deafness (Bjornstad's syndrome)--report of three cases in one family, suggesting autosomal dominant transmission
• Pili torti with deafness (Bjornstad syndrome). Report of a family
• Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
• Preoperative lung function in newborn infants with univentricular hearts compared with healthy controls
• Prevalence estimation of Williams syndrome
• Renal SGLT mRNA expression in human health and disease: a study in two cohorts
• Reversible ischemia in Wellens' syndrome
• Rubella metapopulation dynamics and importance of spatial coupling to the risk of congenital rubella syndrome in Peru
• Sin Nombre hantavirus decreases survival of male deer mice
• Strategic testing approaches for targeted disease monitoring can be used to inform pandemic decision-making
• Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency
• The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36
• The effect of seasonality, density and climate on the population dynamics of Montana deer mice, important reservoir hosts for Sin Nombre hantavirus
• The epidemiology of rubella in Mexico: seasonality, stochasticity and regional variation
• The Impact of Obesity on Disease Severity and Outcomes Among Hospitalized Children With COVID-19
• The impact of shunt size on lung function in infants with univentricular heart physiology
• Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome
• Transitions Between Circulatory States After Out-of-Hospital Cardiac Arrest: Protocol for an Observational, Prospective Cohort Study
• Urbanization prolongs hantavirus epidemics in cities
• Vasopressin mediates fructose-induced metabolic syndrome by activating the V1b receptor
• Williams-Beuren syndrome in Norway
• β1-Integrin blockade prevents podocyte injury in experimental models of minimal change disease