Genetic Defects
Showing 1 - 25 of 9,154
Young Pectus Excavatum Patients and Genetic Defects
Completed
- Genetic Disease
- +2 more
- Genetic analysis
-
Rotterdam, Zuid-Holland, NetherlandsErasmus Medical Center
Jul 1, 2022
Effect of HBA or HBB Genetic Defects on Early Embryonic
Completed
- Thalassemia,Embryonic Development,Reproductive Sterility and Infertility
- Preimplantation genetic diagnosis
-
Changsha, Hunan, ChinaReproductive & Genetic Hospital of CITIC-XIANGYA
Jan 10, 2022
National Cohort on Congenital Defects of the Eye
Recruiting
- Anophthalmia
- +4 more
-
Paris, Île-de-France, FranceRaDiCo-ACOEIL
Jul 18, 2023
Heart Defects, Congenital, Pulmonary Arterial Hypertension, Genetic Testing Trial in Leuven (Genetic testing)
Recruiting
- Heart Defects, Congenital
- +2 more
- Genetic testing
-
Leuven, BelgiumUniversity Hospitals Leuven
May 17, 2022
Birth Defects in Neonatal Intensive Care Units
Recruiting
- Genetic Disease
- +2 more
-
Shanghai, Shanghai, ChinaChildren Hospital of Fudan University
Mar 7, 2022
Using Next Generation Sequencing on Biological Samples to
Completed
- Holoprosencephaly
- NGS
-
Rennes, FranceCHU Rennes
Dec 6, 2021
Genetic Basis of Atrioventricular Conduction Defects: From
Recruiting
- Congenital Complete Heart Block
- Cardiac Conduction Defect Progressive
- genetic blood analysis
-
Nantes, France
- +1 more
Sep 8, 2021
The Genetic Basis of Congenital Heart Disease in Africa
Completed
- Congenital Heart Disease
- Heart Disease
-
Washington, District of Columbia
- +2 more
Apr 7, 2022
Birth Defects, Multiple Congenital Anomaly, Neurodevelopmental Disorders Trial in Edinburg (Whole genome sequencing (WGS))
Recruiting
- Birth Defects
- +2 more
- Whole genome sequencing (WGS)
-
Edinburg, TexasUniversity of Texas Rio Grande Valley
Apr 10, 2022
Obesity Associated With Defects in Leptin-melanocortin Pathway Trial in Worldwide (Setmelanotide)
Enrolling by invitation
- Obesity Associated With Defects in Leptin-melanocortin Pathway
-
Chandler, Arizona
- +31 more
Dec 6, 2022
Heart Defects, Congenital Trial in France (Genetic analyses: whole genome sequencing)
Recruiting
- Heart Defects, Congenital
- Genetic analyses: whole genome sequencing
-
Marseille, Bouches-du-Rhône, France
- +14 more
Jan 31, 2023
Intellectual Disability, Rubinstein-Taybi Syndrome, Cystic Fibrosis Trial in Bordeaux (Ex-vivo approach concerning 25 patients,
Not yet recruiting
- Intellectual Disability
- +6 more
- Ex-vivo approach concerning 25 patients
- In-vitro approach concerning 25 patients
-
Bordeaux, FranceHopital Pellegrin
Jan 23, 2023
Patients With Obesity and Specific Gene Defects in the Melanocortin-4 Receptor Pathway Trial (Setmelanotide, Placebo)
Not yet recruiting
- Patients With Obesity and Specific Gene Defects in the Melanocortin-4 Receptor Pathway
- Setmelanotide
- Placebo
- (no location specified)
Oct 13, 2021
Genetic Determinants of Congenital Heart Disease Outcomes
Completed
- Congenital Heart Disease
- +3 more
-
Atlanta, Georgia
- +4 more
Aug 3, 2021
Personalized Genomic Research
Completed
- Genetics
- +4 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center, 9000 Rockville Pi
Sep 11, 2020
Tracheal and Esophageal Birth Defects in Patients
Recruiting
- Tracheoesophageal Fistula
- +6 more
-
Cincinnati, OhioCincinnati Children's Hospital
Sep 18, 2020
NIAID Centralized Sequencing Protocol
Recruiting
- Atopy
- +3 more
-
Washington, District of Columbia
- +1 more
Jan 12, 2023
Pattern of Metabolic Causes of Neonatal Hypoglycemia
Not yet recruiting
- Neonatal Hypoglycemia
- Metabolic Disease
- (no location specified)
Jul 24, 2023
Genetic Analysis of Immune Disorders
Recruiting
- DOK 8
- +4 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 27, 2023
Hereditary Parkinson s Disease Natural History Protocol
Completed
- Parkinson Disease 6, Early-Onset
- +3 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Nov 8, 2022
Neural Tube and Orofacial Cleft Defects in the Irish Population
Terminated
- Neural Tube Defects (NTDs)
- +2 more
-
Bethesda, MarylandNational Human Genome Research Institute (NHGRI), 9000 Rockville
Dec 4, 2019
Immune Defects in Patients Without Known Immunocompromise
Recruiting
- EBV
- +4 more
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 11, 2023
Examining Genetic Factors That Affect Severity of 22q11.2
Recruiting
- DiGeorge Syndrome
- 22q11.2 Deletion Syndrome
-
New York, New York
- +1 more
Jul 18, 2022
Detection and Characterization of Host Defense Defects
Recruiting
- Immune Defects
-
Bethesda, MarylandNational Institutes of Health Clinical Center
Jan 25, 2023