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call for caution in expanding the mutational spectrum of si gene deficiency
Original title: “A call for caution in expanding the mutational spectrum of SI gene deficiency.”
darier disease a review highlighting new insights from the darier disease international task force
Original title: “Darier disease-A review highlighting new insights from the Darier Disease International Task Force.”
head and neck nut carcinoma radiotherapy dose chemotherapy choice and outcomes lessons from a 7 year complete remission
Original title: “Head and neck NUT carcinoma-radiotherapy dose, chemotherapy choice, and outcomes: lessons from a 7-year complete remission.”
regional variation of aetiologies and complications in chronic kidney disease from thailand thai ckd registry
Original title: “Regional Variation of Aetiologies and Complications in Chronic Kidney Disease From Thailand (THAI-CKD Registry).”
differential contribution of elastin and fibrillin 1 to the cardiovascular phenotype of a double heterozygous marfan and williams beuren syndrome mouse model
Original title: “Differential contribution of elastin and fibrillin-1 to the cardiovascular phenotype of a double heterozygous Marfan and Williams-Beuren syndrome mouse model.”
Highly anticipated data presented at ASCO confirmed what’s been heralded as a medical breakthrough against a historically tough-to-treat tumor.
Original title: “‘Unprecedented’ Revolution data point to paradigm shift in pancreatic cancer”
uk vedolizumab real life experience study in inflammatory bowel disease vest patient characteristics drug persistence and patient centred outcomes
Original title: “The UK vedolizumab real-life experience study in inflammatory bowel disease (VEST): patient characteristics, drug persistence and patient-centred outcomes.”
treatment options in platinum refractory male germ cell cancers current standards and future directions
Original title: “Treatment options in platinum-refractory male germ cell cancers: current standards and future directions.”
calreticulin mutations in essential thrombocythemia and primary myelofibrosis
Original title: “Calreticulin mutations in essential thrombocythemia and primary myelofibrosis.”
kidney replacement therapy as a rescue strategy for severe acidosis in diabetic ketoacidosis a case report
Original title: “Kidney Replacement Therapy as a Rescue Strategy for Severe Acidosis in Diabetic Ketoacidosis: A Case Report.”
electrical impedance tomography derived flow index during spontaneous breathing trial stratifies the risk of reintubation within 48 h after extubation
Original title: “Electrical impedance tomography-derived flow index during spontaneous breathing trial stratifies the risk of reintubation within 48 h after extubation.”
treatment persistence in paediatric onset multiple sclerosis a swedish nationwide registry study
Original title: “Treatment persistence in paediatric-onset multiple sclerosis: A Swedish nationwide registry study.”
identification and functional analysis of a novel nsd2 missense variant in a patient with rauch steindl syndrome
Original title: “Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl Syndrome.”
tunable gene control via rna splicing with a clinically approved small molecule
Original title: “Tunable gene control via RNA splicing with a clinically approved small molecule.”
control of a hospital outbreak with methicillin resistant staphylococcus argenteus in the netherlands june september 2023
Original title: “Control of a hospital outbreak with methicillin-resistant Staphylococcus argenteus in The Netherlands, June-September 2023.”
integrated transcriptomic and epigenomic profiling reveals conserved molecular subtypes across systemic autoimmune diseases
Original title: “Integrated transcriptomic and epigenomic profiling reveals conserved molecular subtypes across systemic autoimmune diseases.”
novel hla class i and ii insights into the pathogenesis of systemic sclerosis associated interstitial lung disease
Original title: “Novel HLA class I and II insights into the pathogenesis of systemic sclerosis-associated interstitial lung disease.”
genetic diagnosis in fetuses with biliary tract system abnormalities a meta analysis and systematic review
Original title: “Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review.”