genetic-diseases

Documents about genetic-diseases

• UW Undiagnosed Genetic Diseases Program#880208ClinicalTrials.gov
• Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN#908732ClinicalTrials.gov
• Effect of Benralizumab in Atopic Dermatitis#968725ClinicalTrials.gov
• Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).#905885ClinicalTrials.gov
• Unifying diseases from a genetic point of view: the example of the genetic theory of infectious diseases#717127PhilArchive
• Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases#869775ClinicalTrials.gov
• Genetic Predictors of Incident Cardiovascular Disease#861998ClinicalTrials.gov
• Genetic and Environmental Determinants of Hypertension#892326ClinicalTrials.gov
• Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)#858226ClinicalTrials.gov
• Genomic Sequencing in Acutely Ill Neonates#966867ClinicalTrials.gov
• Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases#899641ClinicalTrials.gov
• Racial Variation in ACE--Genetic and Physiologic Bases#918758ClinicalTrials.gov
• A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers#869672ClinicalTrials.gov
• Table 1_Diagnostic yield of long-read sequencing for rare diseases: a systematic review.xlsx#259809Figshare
• Efficacy and Safety Study of MSRD-100 in Subjects With Atopic Dermatitis >=3 Months of Age and Older#910143ClinicalTrials.gov
• Genetic Epidemiology of Responses to Antihypertensives#834133ClinicalTrials.gov
• Genetic Epidemiology of Blood Pressure Intervention#184738ClinicalTrials.gov
• Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical Therapy#834507ClinicalTrials.gov
• Genetic Causes of Discrepant Clinic in Monogenic Twins#856929ClinicalTrials.gov
• APOL1 Genetic Testing in African Americans#366680ClinicalTrials.gov
• Genetic Factors in Atherosclerosis#882668ClinicalTrials.gov
• A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers#870066ClinicalTrials.gov
• A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy#967795ClinicalTrials.gov
• A Study Comparing the Quality of Life of Patients in the Treatment of Eczema by Pediatric Generalists and Specialists#911432ClinicalTrials.gov
• RNA Binding Proteins (RBPs) on Genetic Stability and Diseases#249854DigitalCommons@University of Nebraska
• Estría roja en caña de azúcar. Caracterización y análisis molecular del agente etiológico#307694DSpace
• Prevalence of Carriers of Genetic Diseases in the Mexican Jewish Community#812709ClinicalTrials.gov
• Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes#992333ClinicalTrials.gov
• Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases#859057ClinicalTrials.gov
• PKP2-ACM Natural History Study#968524ClinicalTrials.gov
• Safety Study of Ivacaftor in Subjects With Cystic Fibrosis#912617ClinicalTrials.gov
• Genetic Determinants of Kidney Disease in People of African Ancestry With HIV#843188ClinicalTrials.gov
• Rett Syndrome Registry#894600ClinicalTrials.gov
• Genetic Basis of Abdominal Aortic Aneurysm#811275ClinicalTrials.gov
• Genetic Epidemiology of Change in CVD Risk Factors#897262ClinicalTrials.gov
• Highly Accurate Non-Invasive Preimplantation Genetic Testing for Monogenic and Polygenic Diseases from Spent Medium#127875bioRxiv / medRxiv
• Acceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of Phenylketonuria#870840ClinicalTrials.gov
• Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects#837382ClinicalTrials.gov
• A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II#844256ClinicalTrials.gov
• Genetic an Functional Studies of Patient With Inflammatory Bowel Disease#843861ClinicalTrials.gov
• Age-based risk estimates for <i>C9orf72</i>^RE-related diseases: Theoretical developments and added value for genetic counseling#365144PLOS
• Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study#120231PLOS
• An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency#992088ClinicalTrials.gov
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing#827963ClinicalTrials.gov
• Identifying and Genotyping Homozygous Familial Hypercholesterolemia (HoFH) Patients#828259ClinicalTrials.gov
• PREventative Study Against URate-lowering Drug-induced Gout Exacerbations 1#1008858ClinicalTrials.gov
• Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis#806975ClinicalTrials.gov
• A Study to Learn About the Study Medicine Called Tilrekimig in People With Moderate-to Severe Eczema#842961ClinicalTrials.gov
• Exome sequencing to identify the genetic bases for lysosomal storage diseases of unknown etiology#1017709RUcore, Rutgers University Community Repository
• scEPS integrates genetic and single-cell disease atlas data to provide granular mechanistic insights into complex human diseases#410920bioRxiv / medRxiv