| Status | Study |
| Completed |
Study Name: The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition Condition: Multiple Abnormalities Date: 2009-08-07 |
| Recruiting |
Study Name: Whole Genome Medical Sequencing for Genome Discovery Condition: Multiple Congenital Anomaly Syndromes Congenital Disorders Date: 2010-03-13 |
| Enrolling by invitation |
Study Name: Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients Condition: Intellectual Disability Autism Multi Date: 2015-07-07 Interventions: Other: Enhanced Genomic Report |
| Completed |
Study Name: Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability Condition: Intellectual Disability Congenital Abnormalities Date: 2015-05-06 Interventions: Biological: Blood sampling |
| Completed |
Study Name: Genetic Analysis of Fraser Syndrome and Fryns Syndrome Condition: Fraser Syndrome Fryns Syndrome Chromosomal Abnormalities Date: 2002-04-04 |
| Completed |
Study Name: Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Condition: DiGeorge Syndrome Shprintzen Syndrome Chromosome Abnormali Date: 2000-04-06 |
| Available |
Study Name: Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents Condition: Fanconi Anemia Autosomal or Sex Linked Recessive Genetic Disease Date: 2013-11-21 Interventions: Genetic: human whole exome he |
| Active, not recruiting |
Study Name: The Effect of Conservative Interventions on the Signs and Symptoms of Diastasis Recti Condition: Diastasis Recti And Weakness Of The Linea Alba Date: 2014-10-10 Interventions: Other: Exercise therapy Superv |
| Completed |
Study Name: French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Condition: Kabuki Syndrome Date: 2011-03-11 |
| Completed |
Study Name: Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Condition: Joubert Syndrome Cerebello-oculo-renal Syndromes Date: 2009-03-31 Interventions: Biological: Whole blood sample Whole blood sample (10 ml) |