rare-diseases

Documents about rare-diseases

• Study of Individualized Instruction Versus Pamphlet in Systemic Lupus Erythematosus#830180ClinicalTrials.gov
• Plasma cell-free RNA signatures of inflammatory syndromes in children#642132eScholarship
• Spindle cell (sarcomatoid) squamous cell carcinoma of the esophagus: A case report and a review of the literature.#675848eScholarship
• Rising Incidence With Modest Survival Improvement in Salivary Duct Carcinoma: A Population‐Based Study in the United States, 2000–2022#675852eScholarship
• Oil and gas well development and coccidioidomycosis risk in Kern County, CA, USA: a case-crossover study#676009eScholarship
• Increased risk of additional cancers among patients with gastrointestinal stromal tumors: A population‐based study#683982eScholarship
• SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)#846743ClinicalTrials.gov
• Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies#254296HAL (France)
• For Me, Quality of Life Is When I Get Through the Day Without Thinking: I Won't Make It: A Participatory Qualitative Study of Health‐Related Quality of Life in Rare Liver Diseases.#280829NCBI PubMed Central
• Integrating Equity in Topic Selection for Orphan Medicinal Products: Policy Implications for Health Technology Assessment in Rare Diseases#299133Springer Nature OA
• A Trial For Participants With Ewing's Sarcoma Treated With Vigil in Combination With Irinotecan and Temozolomide#633763ClinicalTrials.gov
• Author Correction: Comparative mode of action of the antimicrobial peptide melimine and its derivative Mel4 against Pseudomonas aeruginosa (Scientific Reports, (2019), 9, 1, (7063), 10.1038/s41598-019-42440-2)#190645UNSWorks Repository
• STAT1 gain-of-function variant in a previously healthy patient with disseminated Mycobacterium genavense infection#814608eScholarship
• Both N-Terminal and C-Terminal Histidine Residues of the Prion Protein Are Essential for Copper Coordination and Neuroprotective Self-Regulation#983427eScholarship
• Joint effects of intensity and duration of cigarette smoking on the risk of head and neck cancer: A bivariate spline model approach#983593eScholarship
• Non-canonical Hh signalling through Smoothened controls cytotoxic T cell migration in the tumor microenvironment#296529Apollo
• A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients#895906ClinicalTrials.gov
• Genetic analysis of non‐syndromic craniosynostosis#970656eScholarship
• Wnt signalling in gynaecological cancers: A future target for personalised medicine?#222221UNSWorks Repository
• Reconstituting development of pancreatic intraepithelial neoplasia from primary human pancreas duct cells#491847eScholarship
• Functional Tests to Resolve Unsolved Rare Diseases. Rares.#914238ClinicalTrials.gov
• Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2#1008943ClinicalTrials.gov
• Comparative RNA-Sequencing Analysis Benefits a Pediatric Patient With Relapsed Cancer#619921eScholarship
• Systematically optimized BCMA/CS1 bispecific CAR-T cells robustly control heterogeneous multiple myeloma#609399eScholarship
• The Somatic Genomic Landscape of Glioblastoma#983599eScholarship
• Cannabidiol as add-on Therapy for Children With Refractory Epilepsy (CBD-uN1que), a High-quality Individualized Approach: a Series of N-of-1 Trials#1032341ClinicalTrials.gov
• Therapeutic challenges of a renal collision tumour comprising clear cell renal cell carcinoma and metastatic breast carcinoma: a case report.#486261Apollo
• Assembly and activation of the Hippo signalome by FAT1 tumor suppressor#491786eScholarship
• Alu-dependent RNA editing of GLI1 promotes malignant regeneration in multiple myeloma#492101eScholarship
• Assessing the genetic architecture of epithelial ovarian cancer histological subtypes#612070eScholarship
• Cigarette Smoke Exposure Worsens Endotoxin-Induced Lung Injury and Pulmonary Edema in Mice#614790eScholarship
• Hospitalizations for Autoimmune Hepatitis Disproportionately Affect Black and Latino Americans#684053eScholarship
• Establishment of xenografts of urological cancers on chicken chorioallantoic membrane (CAM) to study metastasis#620072eScholarship
• Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines#620112eScholarship
• Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium#675890eScholarship
• Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic Syndrome#806383ClinicalTrials.gov
• The peroxisomal AAA-ATPase Pex1/Pex6 unfolds substrates by processive threading#491806eScholarship
• Differential causes of masticatory muscle disorders in dogs: a review of diagnosis, treatment and long-term management#612301eScholarship
• Biological Collection of the Rare Diseases of the Brain and Eye Vessels Cohort - 2#902089ClinicalTrials.gov
• Human and mouse essentiality screens as a resource for disease gene discovery#492120eScholarship
• Fibrosis and cancer: A strained relationship#609444eScholarship
• Transcriptomic analysis reveals that BMP4 sensitizes glioblastoma tumor-initiating cells to mechanical cues#620125eScholarship
• Transformative Technology for FLASH Radiation Therapy#675977eScholarship
• Glioblastoma Utilizes Fatty Acids and Ketone Bodies for Growth Allowing Progression during Ketogenic Diet Therapy#619956eScholarship
• Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study#642253eScholarship
• Large-Scale Evaluation of Common Variation in Regulatory T Cell–Related Genes and Ovarian Cancer Outcome#675878eScholarship
• Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients#780487eScholarship
• Combination immunotherapy with TLR agonists and checkpoint inhibitors suppresses head and neck cancer#784311eScholarship
• PTH treatment is effective in the Aga2/+ mouse model of moderate to severe osteogenesis imperfecta#922240eScholarship
• Crossed cerebellar diaschisis on 18F-FDG PET: Frequency across neurodegenerative syndromes and association with 11C-PIB and 18F-Flortaucipir#491885eScholarship