genetic-diseases

Documents about genetic-diseases

• Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases#847035ClinicalTrials.gov
• Mackenzie's Mission: The Australian Reproductive Carrier Screening Project#882362ClinicalTrials.gov
• Specific Genotypes/Phenotypes of Pneumocystis Jirovecii in Solid Organ Transplant Recipients: Potential Involvement of Mycophenolic Acid#995330ClinicalTrials.gov
• Bone Marrow Transplantation in Young Adults With Severe Sickle Cell Disease#864807ClinicalTrials.gov
• Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still'S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases)#1007184ClinicalTrials.gov
• GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)#826462ClinicalTrials.gov
• Genome Medical Sequencing for Gene Discovery#854602ClinicalTrials.gov
• Bone Marrow Transplantation in Treating Children With Sickle Cell Disease#858581ClinicalTrials.gov
• Genetic Variants and Susceptibility to Diseases of Prematurity in Very Low Birth-Weight Infants#875680ClinicalTrials.gov
• Evaluating Prenatal Exome Sequencing Study#891605ClinicalTrials.gov
• Supplementation With Flaxseed Oil in the State of Rio de Janeiro#896208ClinicalTrials.gov
• Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia#966215ClinicalTrials.gov
• The Classification and Cause of Leukodystrophies of Unknown Cause#1032830ClinicalTrials.gov
• Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium#675890eScholarship
• A STUDY OF SOCIO-DEMOGRAPHIC AND BEHAVIORAL CORRELATES OF PREMARITAL HEALTH SCREENING IN ALIMOSHO, LAGOS#68659DataCite
• A STUDY OF SOCIO-DEMOGRAPHIC AND BEHAVIORAL CORRELATES OF PREMARITAL HEALTH SCREENING IN ALIMOSHO, LAGOS#68660DataCite
• Molecular variability of watermelon mosaic virus isolates from Argentina#279789DSpace
• Molecular surveillance of multiplicity of infection, haplotype frequencies, and prevalence in infectious diseases#379060PLOS
• Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD#844427ClinicalTrials.gov
• CER-001 Therapy as a Novel Approach to Treat Genetic Orphan Diseases#994912ClinicalTrials.gov
• A Social Media Approach to Improve Genetic Risk Communication Phase I#851864ClinicalTrials.gov
• Management of Health-Related QoL Impairment, Including Pain, Depression and Anxiety, in People With Haemophilia A and B#846596ClinicalTrials.gov
• 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
• A Study to Assess the Safety and Pharmacokinetics of HBI-002, an Oral Carbon Monoxide Therapeutic, in Healthy Volunteers#912177ClinicalTrials.gov
• Precision Diagnosis and Care for Families With Pulmonary Fibrosis in Ireland#981845ClinicalTrials.gov
• Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3#235093HAL (France)
• North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)#325248ClinicalTrials.gov
• Genetic Determinants of Ankylosing Spondylitis Severity - Longitudinal Study#891669ClinicalTrials.gov
• Phase II Randomized, Double-Blind, Placebo-Controlled Study of Intravenous Mucoid Exopolysaccharide Pseudomonas Aeruginosa Immune Globulin for Cystic Fibrosis#903761ClinicalTrials.gov
• 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
• Understanding the Genetic Basis of extreme levels of High and Low LDL- Cholesterol in African Populations#673199WIReDSpace
• Nano-Embedded Bioplatform for Ocular Delivery of Genetic Material#673206WIReDSpace
• Paradoxical Tuberculosis Reactions in Patients Without HIV Infection#832501ClinicalTrials.gov
• "My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.#247764NCBI PubMed Central
• 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
• Study of the Natural History and Genotype-Phenotype Correlations of Hereditary Hemorrhagic Telangiectasia Patients#802301ClinicalTrials.gov
• HOPE-CVD-Virtual: A Virtual Trial to Evaluate the Primary Prevention of CVD#803272ClinicalTrials.gov
• Phase II Pilot Study of Extracorporeal Phototherapy for Epidermolysis Bullosa Acquisita#904520ClinicalTrials.gov
• Genetic Substudy of the Alternans Before Cardioverter Defibrillator (ABCD) Trial#1010040ClinicalTrials.gov
• Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders#1008696ClinicalTrials.gov
• Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)#844577ClinicalTrials.gov
• Identifying Genetic Determinants of Eczema Herpeticum and Other Viral Infections in Individuals With Atopic Dermatitis#896888ClinicalTrials.gov
• A Study Evaluating the Safety and Efficacy of EDIT-301 in Participants With Severe Sickle Cell Disease (RUBY)#874461ClinicalTrials.gov
• Análisis de la calidad percibida por las familias en el asesoramiento genético pediátrico#359887Gestión del Repositorio Documental de la Universidad de Salamanca
• Phase III Randomized, Placebo-Controlled, Crossover Study of Soy Protein Isolate for Hereditary Hemorrhagic Telangiectasia#803452ClinicalTrials.gov
• Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation#847487ClinicalTrials.gov
• Novel Risk Prediction Approaches for the Primary Prevention of Cardiovascular Diseases in Italy: the CVRISK-IT Trial (CVRISK-IT)#916916ClinicalTrials.gov
• Single-Arm Study To Evaluate The Efficacy and Safety of Valoctocogene Roxaparvovec in Hemophilia A Patients at a Dose of 4E13 vg/kg#913184ClinicalTrials.gov
• A Trial of Metformin in Individuals With Fragile X Syndrome#290960ClinicalTrials.gov
• The disease burden and health-related quality of life in Chinese children with genetic cholestatic liver diseases: a cross-sectional study of progressive familial intrahepatic cholestasis and Alagille syndrome.#295477NCBI PubMed Central