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Abnormalities, Multiple - 435 Studies Found

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
  • 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)
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