6,999 results on '"Genetic Diseases, Inborn"'
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2. Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
3. Pediatric Patients With Metabolic or Other Genetic Disorders
4. Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
5. Effects of Treatments on Atopic Dermatitis
6. Screening Protocol for Genetic Diseases of Allergic Inflammation
7. Inherited Reproductive Disorders
8. Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
9. Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
10. Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases
11. Clinical Performance of Medical Device Software 'Lipidica 1.0' for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening
12. Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)
13. The China Neonatal Genomes Project (CNGP)
14. Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
15. PKP2-ACM Natural History Study
16. A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
17. Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy
18. Effects of Hand Arm Bimanual Intensive Therapy Including Lower Extremity on Balance and Coordination in Ataxic Cerebral Palsy
19. Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients (MARINA-OLE)
20. Genetic Studies in the Amish and Mennonites
21. Extension Study to Study PQ-110-001 (NCT03140969) (INSIGHT)
22. Study to Evaluate Ultevursen in Subjects with Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene (LUNA)
23. Insights Into Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS Study)
24. Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
25. Novel Genetic Disorders of the Immune System
26. Educational Video for Genetic Testing
27. A Safety and Efficacy Study Evaluating CTX001 in Subjects With Transfusion-Dependent β-Thalassemia
28. Effect of Large Neutral Amino Acids in Adults with Classical Phenylketonuria
29. Sequential EHR Based Interventions to Increase Genetic Testing for Breast and Ovarian Cancer Predisposition
30. Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease in Children at Sohag University Hospital
31. Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies. (BROOKLYN)
32. Long Term Extension Study in Patients With Primary Hyperoxaluria (PHYOX3)
33. A Long-term Follow-up Study in Participants Who Received CTX001
34. Genetic Screening and Assisted Oocyte Activation in Couples with Diminished/aberrant Embryonic Development. (AOA)
35. UW Undiagnosed Genetic Diseases Program
36. North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (NAMDC)
37. CUHK Stroke Biobank
38. Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2 (CanSeR-OGen)
39. Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome (PWS-GXR)
40. Evaluation of Association Between Testosterone Levels, Dementia, and Adverse Mental Health Outcomes
41. Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
42. STXBP1 and SYNGAP1 Related Disorders Natural History Study
43. The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment (eMERGE)
44. Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
45. National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry (RENOMICA-Hcor)
46. Genome Sequencing in the Intensive Care Unit Population (PISCES)
47. Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria (RICHH)
48. Efficacy of Virtual Reality on Balance in Children With Ataxic Cerebral Palsy Randomized Controlled Trail
49. Promoting Stress Management and Resilience Among Individuals With Von Hippel- Lindau Disease
50. A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3)
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