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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 between stigma and quality of life of children with rare diseases in romania
Original title: “The relationship between stigma and quality of life of children with rare diseases in Romania.”
preclinical evaluation of 68 ga labeled gsk3326595 for prmt5 expression with micropet ct in pan cancer
Original title: “Preclinical Evaluation of (68)Ga-Labeled GSK3326595 for PRMT5 Expression with microPET-CT in Pan-Cancer.”
catalog of the pathogenic variants in abcg5 and abcg8 and clinical features in sitosterolemia
Original title: “A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.”
multiple hyalinizing granulomas mimicking pulmonary malignancy
Original title: “Multiple hyalinizing granulomas mimicking pulmonary malignancy.”
musculoskeletal pathology in children with infantile cerebral palsy a new classification system
Original title: “[Musculoskeletal pathology in children with infantile cerebral palsy: a new classification system].”
simultaneous detection of pngase and engase activities in tissue lysate or cytosol using a simply designed high mannose type glycopeptide probe containing an asn leu leu sequence
Original title: “Simultaneous detection of PNGase and ENGase activities in tissue lysate or cytosol using a simply designed high-mannose-type glycopeptide probe containing an Asn-leu-leu sequence.”
gallbladder agenesis and false negative functional imaging a case report
Original title: “Gallbladder Agenesis and False-Negative Functional Imaging: A Case Report.”
recurrent penile and scrotal edema as an extracolonic manifestation of metastatic crohn s disease in an adult patient
Original title: “Recurrent Penile and Scrotal Edema as An Extracolonic Manifestation of Metastatic Crohn's Disease in an Adult Patient.”
dart swog nci phase ii anti ctla 4 pd 1 trial clear cell carcinomas of ovary endometrium cervix
Original title: “DART/SWOG/NCI phase II anti-CTLA-4/PD-1 trial: clear cell carcinomas of ovary, endometrium, cervix.”
salvage therapy with jak inhibitors in refractory takayasu arteritis a multicentre experience
Original title: “Salvage therapy with JAK inhibitors in refractory Takayasu arteritis: a multicentre experience.”
disseminated mycobacterium marinum infection diagnostic and therapeutic challenges in an immunocompromised host
Original title: “Disseminated Mycobacterium marinum infection: diagnostic and therapeutic challenges in an immunocompromised host.”
paediatric cervical spinal cord injuries in motor vehicle crashes a national study of injury patterns and restraint use
Original title: “Paediatric cervical spinal cord injuries in motor vehicle crashes: a national study of injury patterns and restraint use.”
ultra performance liquid chromatography mass spectrometry based metabolic profiling of prepubertal children with turner syndrome
Original title: “Ultra-performance Liquid Chromatography-mass Spectrometry-based metabolic profiling of prepubertal children with Turner syndrome.”
sfrp4 is required for proper dental formation and stem cell regulation
Original title: “Sfrp4 Is Required for Proper Dental Formation and Stem Cell Regulation.”
emerging challenges of cedecea lapagei infection a rare case of pneumonia with bacteremia and literature review
Original title: “Emerging challenges of Cedecea lapagei infection: a rare case of pneumonia with bacteremia and literature review.”
disseminated bartonellosis masquerading as autoimmune glomerulonephritis a case report
Original title: “Disseminated Bartonellosis Masquerading as Autoimmune Glomerulonephritis: A Case Report.”
autoimmune hepatitis unmasked by acute viral hepatitis a diagnostic and therapeutic challenge
Original title: “Autoimmune Hepatitis Unmasked by Acute Viral Hepatitis: A Diagnostic and Therapeutic Challenge.”
chronic lymphocytic leukemia with igh bcl2 fusion and clonal heterogeneity phenotypic and molecular profiling analysis of a rare case
Original title: “Chronic lymphocytic leukemia with IGH/BCL2 fusion and clonal heterogeneity: phenotypic and molecular profiling analysis of a rare case.”
single cell analysis of the peripheral immune landscape in parkinson s disease insights into dendritic cell and cd4 t cell transcriptomics
Original title: “Single-cell analysis of the peripheral immune landscape in Parkinson's disease: insights into dendritic cell and CD4+ T-cell transcriptomics.”
progression of diabetic retinopathy during pregnancy in a woman with abcc8 mody
Original title: “Progression of diabetic retinopathy during pregnancy in a woman with ABCC8-MODY.”