genetic-diseases

Documents about genetic-diseases

• Study of Clinical and Molecular Manifestations of Genetic Disorders#916291ClinicalTrials.gov
• Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases#133224bioRxiv / medRxiv
• Nursing's Role in Advancing Care for Rare Genetic Diseases.#247534NCBI PubMed Central
• Transforming clinical trials in rare genetic diseases through telemedicine.#247566NCBI PubMed Central
• Genetic Epidemiology and Energy Metabolism in Black Girls#871082ClinicalTrials.gov
• Genetic Epidemiology of Asthma in Costa Rica#874502ClinicalTrials.gov
• Genetic Epidemiology of Blood Lipids and Obesity - Ancillary to NGHS#889121ClinicalTrials.gov
• Developing prognostic models that predict onset and progression rates in genetic neurodegenerative diseases: perspectives of healthcare professionals in genetic counselling.#244136NCBI PubMed Central
• An Exploratory Clinical Trial in Early Stage Huntington's Disease Patients With SEN0014196#896852ClinicalTrials.gov
• Genetic Analysis of Human Hypertensive End Stage Renal Disease (H-ESRD)#172444ClinicalTrials.gov
• Study of Neurodegenerative Diseases Induced Stem Cells in Patients and Healthy Family Controls.#872016ClinicalTrials.gov
• Genetic and Epidemiologic Studies of Premature Coronary Artery Disease - SCOR in Arteriosclerosis#906677ClinicalTrials.gov
• Genetic diversity of two poleroviruses affecting faba bean and chickpea crops in Tunisia#205060CGSpace
• Genetic and Blood Biomarkers in Neurological and Neuromuscular Diseases#839188ClinicalTrials.gov
• A Study of Fitusiran (ALN-AT3SC) in Severe Hemophilia A and B Patients Without Inhibitors#855358ClinicalTrials.gov
• Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients#850651ClinicalTrials.gov
• Kidney Information Network for Disease Research and Education#844818ClinicalTrials.gov
• The Alfred Step Test Exercise Protocol (A-STEP), for Adults With Cystic Fibrosis.#876851ClinicalTrials.gov
• Genetic and Immune Studies of Rheumatoid Arthritis and Related Conditions#847776ClinicalTrials.gov
• Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data#172200PLOS
• Functional genetic signatures of the gut microbiome in cardiometabolic diseases: mechanisms and translational opportunities.#439085NCBI PubMed Central
• Fluoxetine in KCNC1-related Disorder#805565ClinicalTrials.gov
• Decoding Developmental Disorders in Humams#859897ClinicalTrials.gov
• Structural Chromosome Rearrangements and Brain Disorders#893066ClinicalTrials.gov
• Detection of critical transition states in complex diseases based on distance correlation coefficient#376011PLOS
• Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy#828609ClinicalTrials.gov
• Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia#856451ClinicalTrials.gov
• Genetic Markers of Coronary Heart Disease in Type 2 Diabetes#878681ClinicalTrials.gov
• Structure-aware retinal disentanglement reveals the genetic architecture of ocular and systemic diseases.#193559NCBI PubMed Central
• Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions#860983ClinicalTrials.gov
• Self-questionnaire in Osteoporosis#861466ClinicalTrials.gov
• CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction#813786ClinicalTrials.gov
• Molecular Investigation of GENetic Factors in Cardiovascular and Immune-related Traits and Diseases Using a BIOresource of Healthy Volunteers (GENBIO)#980295ClinicalTrials.gov
• Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB#981099ClinicalTrials.gov
• Structure-aware retinal disentanglement reveals the genetic architecture of ocular and systemic diseases#187824PLOS
• Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria#896093ClinicalTrials.gov
• Study of Metabolic Effects of Pregnancy in Women With Cystic Fibrosis#883582ClinicalTrials.gov
• A Safety and Efficacy Study Evaluating CTX001 in Participants With Transfusion-Dependent β-Thalassemia#892461ClinicalTrials.gov
• Study of Hepatic Glucose Production and De Novo Lipogenesis in Patients With Cystic Fibrosis#967212ClinicalTrials.gov
• Molecular Investigation of Genetic Factors in CArDiovascular Diseases Using an BIOresource of Healthy Volunteers#865424ClinicalTrials.gov
• Genetic counselors’ perspectives on perceived patient barriers to access and reimbursement for whole exome and genome sequencing in rare diseases#359008RUcore, Rutgers University Community Repository
• APOL1 Genetic Testing Program for Living Donors#806388ClinicalTrials.gov
• Evaluation of Genetic-molecular Causes of Out-of-Hospital Cardiac Arrest: From Patients to Families#911803ClinicalTrials.gov
• A Study of DCR-PH1 in Patients With Primary Hyperoxaluria Type 1 (PH1)#908572ClinicalTrials.gov
• Implementing Digital Health in a Learning Health System#303623ClinicalTrials.gov
• Shared Genetic Architecture and Multidimensional Modifiable Correlates between Myopia and Retinal-Optic Nerve Diseases.#362147NCBI PubMed Central
• Metabolic vulnerability, genetic susceptibility, and incident age-related eye diseases: a prospective cohort study.#368155NCBI PubMed Central
• A Gene Transfer Study for Hemophilia A#826644ClinicalTrials.gov
• Genetic testing in parkinson's disease#203526SUNScholar
• Study of Ibuprofen to Preserve Lung Function in Patients With Cystic Fibrosis#894953ClinicalTrials.gov