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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.
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relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3
Original title: “Relationship of subclinical lung injury to chronic airway inflammation in spinocerebellar ataxia type 3.”
compound heterozygous mutations in the ush2a gene causing non syndromic retinitis pigmentosa
Original title: “Compound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.”
a rough and swirling sea voicing amyotrophic lateral sclerosis through discourse analysis
Original title: “"A rough and swirling sea": Voicing Amyotrophic Lateral Sclerosis through discourse analysis.”
atrial fibrillation genetic architecture and polygenic risk prediction
Original title: “Atrial fibrillation: genetic architecture and polygenic risk prediction.”
2016 sjia mas criteria and a step up therapeutic approach in kd mas insights from a combined cohort and literature review
Original title: “2016 sJIA-MAS criteria and a step-up therapeutic approach in KD-MAS: insights from a combined cohort and literature review.”
atypical clinical presentation and diagnostic difficulties of a rare disease fibrodysplasia ossificans progressiva
Original title: “Atypical Clinical Presentation and Diagnostic Difficulties of a Rare Disease: Fibrodysplasia Ossificans Progressiva.”
superior intracellular detection of cytokines transcription factors and phosphoproteins by cytof compared with fluorescent cytometry
Original title: “Superior Intracellular Detection of Cytokines, Transcription Factors, and Phosphoproteins by CyTOF Compared With Fluorescent Cytometry.”
asthma screening in children with sickle cell disease in french guiana
Original title: “Asthma screening in children with sickle cell disease in French Guiana.”
neonatal klhl24 associated epidermolysis bullosa simplex clinical presentation and genetic confirmation of a rare skin fragility syndrome
Original title: “Neonatal KLHL24-Associated Epidermolysis Bullosa Simplex: Clinical Presentation and Genetic Confirmation of a Rare Skin Fragility Syndrome.”
septic embolus resulting in m1 occlusion with separate multiple distal mycotic aneurysms complicated by surrounding concurrent cerebral abscess illustrative case
Original title: “Septic embolus resulting in M1 occlusion with separate, multiple distal mycotic aneurysms, complicated by surrounding concurrent cerebral abscess: illustrative case.”
acute retinal necrosis presenting with exudative retinal detachment clinical features and outcomes
Original title: “Acute Retinal Necrosis Presenting with Exudative Retinal Detachment: Clinical Features and Outcomes.”
global regional and national burden of soft tissue and other extraosseous sarcomas 1990 2021 a systematic analysis for the global burden of disease study 2021
Original title: “Global, regional, and national burden of soft tissue and other extraosseous sarcomas, 1990-2021: A Systematic analysis for the global burden of disease study 2021.”
recurrent eosinophilic pancreatitis with eosinophilic gastroenteritis a case report
Original title: “Recurrent Eosinophilic Pancreatitis With Eosinophilic Gastroenteritis: A Case Report.”
reversing the irreversible a case of successful surgical repair in a late presenting aortopulmonary window with severe pulmonary hypertension
Original title: “Reversing the irreversible? A case of successful surgical repair in a late-presenting aortopulmonary window with severe pulmonary hypertension.”
thyroid cancer and thyroid nodules in acromegaly a single center retrospective study
Original title: “Thyroid cancer and thyroid nodules in acromegaly: a single-center retrospective study.”
impact of pain on quality of life qol in patients with acromegaly profound differences in physical and mental aspects of qol
Original title: “Impact of pain on quality of life (QoL) in patients with acromegaly: profound differences in physical and mental aspects of QoL.”
prion diseases creutzfeldt jakob and differential diagnoses
Original title: “[Prion diseases : Creutzfeldt-Jakob and differential diagnoses].”
case of autosomal dominant polycystic kidney disease with multiple bilateral spontaneous retroperitoneal hemorrhages
Original title: “A case of autosomal dominant polycystic kidney disease with multiple bilateral spontaneous retroperitoneal hemorrhages.”
landscape of somatic mutations in a large cohort of chinese patients with immune dysregulations
Original title: “Landscape of somatic mutations in a large cohort of Chinese patients with immune dysregulations.”
caplan s syndrome rare pneumoconioses in clinical practice case report
Original title: “[Caplan's syndrome - rare pneumoconioses in clinical practice: case report].”