rare-diseases

Documents about rare-diseases

• Epithelial to Mesenchymal Transition in Neuroblastoma: Mechanisms and Therapeutic Considerations#978654Apollo
• A rare case report of decompensated cirrhosis from hereditary hemochromatosis following lung transplant in a person with cystic fibrosis#684033eScholarship
• Preprocedural Video Education on Liver Ablation Treatment#814632eScholarship
• Phase I Pilot Study of Ad5-CB-CFTR, an Adenovirus Vector Containing the Cystic Fibrosis Transmembrane Conductance Regulator Gene, in Patients With Cystic Fibrosis#904566ClinicalTrials.gov
• Quantifying associations of genotype, proteinuria and eGFR with long-term kidney outcomes in Alport Syndrome using data from the UK National Registry of Rare Kidney Diseases (RaDaR).#349765bioRxiv / medRxiv
• What Is at Stake in Genetic Newborn Screening for Rare Diseases? An Exploratory Qualitative Study of Parents' and Expectant Parents' Concerns in the Screen4Care Project.#469443NCBI PubMed Central
• Determining the Long-Term Effects of Prenatal Dexamethasone Treatment in Children With 21-Hydroxylase Deficiency and Their Mothers#980103ClinicalTrials.gov
• Effect of Dialysis Dose and Membrane Flux in Maintenance Hemodialysis#982501ClinicalTrials.gov
• Universal Polymerase Chain Reaction and Antibody Testing Demonstrate Little to No Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in a Rural Community#619922eScholarship
• Raw Garlic Consumption and Risk of Liver Cancer: A Population-Based Case-Control Study in Eastern China#780451eScholarship
• FGFR1 and NTRK3 actionable alterations in “Wild-Type” gastrointestinal stromal tumors#784333eScholarship
• What is at stake in genetic newborn screening for rare diseases? : : an exploratory qualitative study of parents’ and expectant parents’ concerns in the Screen4Care project#784058Deutsche Nationalbibliothek
• Prospective Observational International Registry of Patients With Newly Diagnosed Peripheral T Cell Lymphoma.#800686ClinicalTrials.gov
• Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients#802301ClinicalTrials.gov
• Epilepsy Learning Healthcare System (ELHS)#843520ClinicalTrials.gov
• Phase II Randomized Study of Collagenase in Patients With Residual Type Dupuytren's Disease#860240ClinicalTrials.gov
• Randomized Study of Acetylcysteine in Patients With Acute Liver Failure Not Caused by Acetaminophen#866757ClinicalTrials.gov
• Phase II Study of Long-Term Dehydroepiandrosterone for Systemic Lupus Erythematosus#882604ClinicalTrials.gov
• Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita#904520ClinicalTrials.gov
• The Next Frontier: Head and Neck Cancer Immunoprevention#614642eScholarship
• Implementation and Operational Research#634751eScholarship
• Duodenal-Jejunal Flexure GI Stromal Tumor Frequently Heralds Somatic NF1 and Notch Pathway Mutations#684057eScholarship
• Phase II Randomized, Double-Blind, Placebo-Controlled Study of Intravenous Mucoid Exopolysaccharide Pseudomonas Aeruginosa Immune Globulin for Cystic Fibrosis#903761ClinicalTrials.gov
• Inhibition of Host Gene Expression by KSHV: Sabotaging mRNA Stability and Nuclear Export#492098eScholarship
• Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)#370996IRIS
• A Real-World Medical Chart Review of Spinal Muscular Atrophy Patients Treated With Onasemnogene Abeparvovec in Saudi Arabia#918423ClinicalTrials.gov
• A rare ORAI1 missense variant associates with risk of vascular diseases in White British adults#1053135Europe PMC
• The gammaherpesviral TATA-box-binding protein directly interacts with the CTD of host RNA Pol II to direct late gene transcription#609406eScholarship
• Targeting CEA in Pancreas Cancer Xenografts with a Mutated scFv-Fc Antibody Fragment#612106eScholarship
• Análisis de la calidad percibida por las familias en el asesoramiento genético pediátrico#359887Gestión del Repositorio Documental de la Universidad de Salamanca
• Benchmarking the Impact of Data Leakage on the Performance of Knowledge Graph Embedding Models for Biomedical Link Prediction#676953HAL (France)
• Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia#803452ClinicalTrials.gov
• Phase II Study of Lactulose and Circadian Rhythms in Patients With Cirrhosis#877211ClinicalTrials.gov
• Task Shifting and Skin Punch for the Histologic Diagnosis of Kaposi's Sarcoma in Sub-Saharan Africa: A Public Health Solution to a Public Health Problem#683983eScholarship
• Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy#868227ClinicalTrials.gov
• T-Cell Project: Prospective Collection of Data in Patients With Peripheral T-Cell Lymphoma#870178ClinicalTrials.gov
• Randomized Study of Nimodipine Versus Magnesium Sulfate in the Prevention of Eclamptic Seizures in Patients With Severe Preeclampsia#882855ClinicalTrials.gov
• Billion Dollar Orphans: Tension Between the Legal Intent and Social Purpose of the Orphan Drug Act#1021890Texas A&M Law Scholarship
• Inhibition of JNK signaling in the Asian malaria vector Anopheles stephensi extends mosquito longevity and improves resistance to Plasmodium falciparum infection#492111eScholarship
• An Analysis of Isoclonal Antibody Formats Suggests a Role for Measuring PD-L1 with Low Molecular Weight PET Radiotracers#619957eScholarship
• Cholesterol biosynthesis supports the growth of hepatocarcinoma lesions depleted of fatty acid synthase in mice and humans#780554eScholarship
• Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone#832100ClinicalTrials.gov
• Pbi-shRNA™ EWS/FLI1 Type 1 LPX in Subjects With Advanced Ewing's Sarcoma#146439ClinicalTrials.gov
• Artificial Intelligence to Help Reduce Delays and Bottlenecks in the Care Pathways for Rare Diseases: An Integrated Practitioner–Patient Approach#246869HAL (France)
• Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome#848863ClinicalTrials.gov
• Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease#870000ClinicalTrials.gov
• The chromatin regulator Brg1 suppresses formation of intraductal papillary mucinous neoplasm and pancreatic ductal adenocarcinoma#634722eScholarship
• Plasma Folate, Vitamin B12, and Homocysteine and Cancers of the Esophagus, Stomach, and Liver in a Chinese Population#814636eScholarship
• Aggressive Natural Killer Cell Leukemia: A Rare and Rapidly Progressive Hematologic Malignancy—Case Report and Literature Review#211595ODU Digital Commons
• Study of Prognosis of Follicular Lymphoma Through a Prospective Collection of Data (F2-study)#825196ClinicalTrials.gov