| Screening of Pulmonary Veino Occlusive Disease in Heterozygous EIF2AK4 Mutation Carriers (NCT03902353) | Assistance Publique - Hôpitaux de Paris | 2019-09-23 |
| Application of a Systematic Developmental Assessment to a Novel Population: Infants With Rare Genetic Disorders (NCT03967743) | Boston Children's Hospital | 2019-08-26 |
| Utility of Rapid Whole Genome Sequencing in the NICU: A Pilot Study (NCT03918707) | University of Illinois College of Medicine at Peoria | 2019-06-01 |
| NGLY1 Deficiency: A Prospective Natural History Study (NCT03834987) | Stanford University | 2019-02-01 |
| Drug-induced Repolarization ECG Changes (NCT03642405) | Copenhagen University Hospital at Herlev | 2018-08-15 |
| Extension Treatment Using EryDex System in Patients With AT Who Participated in the ATTeST-IEDAT-02-2015 Study (NCT03563053) | Quince Therapeutics S.p.A. | 2018-06-12 |
| Diagnostic Odyssey: Whole Genome Sequencing (WGS) (NCT03458962) | Nicklaus Children's Hospital f/k/a Miami Children's Hospital | 2018-02-20 |
| Ensuring Patients' Informed Access to Noninvasive Prenatal Testing (NCT03420274) | The Cleveland Clinic | 2018-02-19 |
| New Variants Involved in Taybi-Linder Syndrome (NCT03222947) | Hospices Civils de Lyon | 2017-09-01 |
| Rapid Whole Genome Sequencing Study (NCT03385876) | Rady Pediatric Genomics & Systems Medicine Institute | 2017-08-29 |
| Perinatal Precision Medicine (NCT03211039) | Rady Pediatric Genomics & Systems Medicine Institute | 2017-06-29 |
| Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients (NCT02770807) | Quince Therapeutics S.p.A. | 2017-03-02 |
| Genetic of SportS Induced Endofibrotic Remodeling (NCT02704260) | University Hospital, Angers | 2016-03-02 |
| Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Teleangiectasia Patients (NCT01255358) | Quince Therapeutics S.p.A. | 2011-02-01 |