15,890 results on '"Genetic Diseases, Inborn"'
Search Results
2. Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
3. Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
4. Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases (GENIALII)
5. DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study
6. Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
7. Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
8. Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
9. A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 (PHYOX2)
10. Pediatric Patients With Metabolic or Other Genetic Disorders
11. Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
12. Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
13. Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders
14. A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
15. Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
16. Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
17. A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia
18. Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units
19. Technological Development and Clinical Parallel Testing of PGT-G
20. A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy
21. Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing
22. Genetic Study of Obstructive Azoospermia
23. Effects of Treatments on Atopic Dermatitis
24. Inherited Reproductive Disorders
25. Screening Protocol for Genetic Diseases of Allergic Inflammation
26. Genetic Studies in the Amish and Mennonites
27. Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
28. iKnow: A Prospective Study to Evaluate the Use of Multi-omics in Multi-System, Early Onset Disorders (iKnow)
29. Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles (HiFi-NDD)
30. Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
31. Implementing Digital Health in a Learning Health System (ASE-INNOVATE)
32. Lipid Transport Disorder Italian Genetic Record (LIPIGEN) (LIPIGEN)
33. Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
34. Family Health Histories: Creating a Culturally Tailored Tool to Reduce Health Disparities in the Black Community (FHH)
35. Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
36. Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
37. Genomic Sequencing for Childhood Risk and Newborn Illness
38. Fluoxetine in KCNC1-related Disorder
39. Pancreatic Cancer Screening in a Population at High Risk (ScrePan)
40. A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3)
41. Evaluating the Efficacy and Safety of Large Neutral Amino Acids in the Treatment of Classical Phenylketonuria
42. Educational Video for Genetic Testing
43. Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] (RESTORE)
44. Natural History Study of Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
45. Genetic Disorders of Obesity Program Database (GDOP)
46. Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN (ORIGIN)
47. Evaluation of Cascade Screening for Elevated Lipoprotein(a) (LipoaScreen)
48. Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A
49. Biobank Clinical Genetics Maastricht (KG01) (KG01)
50. Newborn Genomics Programme
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.