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Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.
20 earlier
adult onset stills disease diagnosed in pregnancy
Original title: “Adult-Onset Stills Disease Diagnosed in Pregnancy.”
msidat an automated platform for improved metabolite annotation in mass spectrometry imaging via mass shift evaluation and customized databases
Original title: “MSIDAT: an automated platform for improved metabolite annotation in mass spectrometry imaging via mass shift evaluation and customized databases.”
multisociety consensus statement on a new common definition and diagnostic criteria for psvd or ncpf
Original title: “A multisociety consensus statement on a new common definition and diagnostic criteria for PSVD or NCPF.”
dosage of lipoproteins for risk management according to guidelines
Original title: “Dosage of lipoproteins for risk management according to guidelines.”
aqp4 nmosd mda5 clinically amyopathic dermatomyositis and shlh in a pediatric patient a case report and literature review
Original title: “AQP4+ NMOSD, MDA5+ Clinically Amyopathic Dermatomyositis and sHLH in a Pediatric Patient: A Case Report and Literature Review.”
evidence aggregator ai reasoning applied to rare disease diagnostics
Original title: “The Evidence Aggregator: AI reasoning applied to rare disease diagnostics.”
inter assay and inter site performance of alpha synuclein seed amplification assays in synucleinopathies a multicenter 2 2 protocol comparison
Original title: “Inter-assay and Inter-site Performance of Alpha-Synuclein Seed Amplification Assays in Synucleinopathies: A Multicenter 2 × 2 Protocol Comparison.”
report 2 macular edema after acute retinal necrosis a difficult crossroad in management
Original title: “Report 2: Macular edema after acute retinal necrosis-A difficult crossroad in management.”
multisociety consensus statement on a new common definition and diagnostic criteria for psvd or ncpf
Original title: “A multisociety consensus statement on a new common definition and diagnostic criteria for PSVD or NCPF.”
congenital tracheal stenosis the challenge of complete tracheal rings
Original title: “Congenital Tracheal Stenosis: The Challenge of Complete Tracheal Rings.”
immune checkpoint inhibitor therapy for treatment of periocular merkel cell carcinoma a systematic review of clinical outcomes and safety
Original title: “Immune checkpoint inhibitor therapy for treatment of periocular Merkel cell carcinoma: A systematic review of clinical outcomes and safety.”
mechanism of age related accumulation of mtdna mutations in human blood
Original title: “Mechanism of age-related accumulation of mtDNA mutations in human blood.”
societal preferences for assessment pathways of rare disease drugs a discrete choice experiment
Original title: “Societal Preferences for Assessment Pathways of Rare Disease Drugs: A Discrete Choice Experiment.”
ocular involvement in toxic epidermal necrolysis syndrome at chelsea and westminster hospital a 10 year retrospective analysis and review of current literature
Original title: “Ocular involvement in toxic epidermal necrolysis syndrome at Chelsea and Westminster Hospital: a 10-year retrospective analysis and review of current literature.”
histiocytosis development and clinical variation through the lens of genomics
Original title: “Histiocytosis development and clinical variation through the lens of genomics.”
multimodal genotype phenotype analysis in smarcb1 associated developmental disorders
Original title: “Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.”
dna tests for ancestry and phenotype inference applied to the uk metropolitan police operation minstead the investigation of serial sex offender delroy grant
Original title: “DNA tests for ancestry and phenotype inference applied to the UK Metropolitan Police Operation Minstead: The investigation of serial sex offender Delroy Grant.”
metastatic cancers to the oral cavity a 42 year experience
Original title: “Metastatic Cancers to the Oral Cavity: A 42-Year Experience.”
report of the scientific network holimitox on succinate dehydrogenase inhibitor sdhi pesticides new insights and challenges with an ecohealth approach presentations and round tables from the holimitox day on november 7 2024
Original title: “Report of the scientific network Holimitox on succinate dehydrogenase inhibitor (SDHI) pesticides: new insights and challenges with an EcoHealth approach-presentations and round tables from the Holimitox day on November 7, 2024.”
diffuse pruritic maculopapular rash with pitted necrosis
Original title: “Diffuse Pruritic Maculopapular Rash With Pitted Necrosis.”