Abnormalities, Multiple - 435 Studies Found

Completed : The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
: Multiple Abnormalities
: 2009-08-07
Recruiting : Whole Genome Medical Sequencing for Genome Discovery
:
  • Multiple Congenital Anomaly Syndromes
  • Congenital Disorders

    • : 2010-03-13
Enrolling by invitation : Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
:
  • Intellectual Disability
  • Autism
  • Multi
    : 2015-07-07
    :
    • Other: Enhanced Genomic Report

Completed : Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
:
  • Intellectual Disability
  • Congenital Abnormalities

: 2015-05-06
: Biological: Blood sampling
Completed : Genetic Analysis of Fraser Syndrome and Fryns Syndrome
:
  • Fraser Syndrome
  • Fryns Syndrome
  • Chromosomal Abnormalities : 2002-04-04
Completed : Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
:
  • DiGeorge Syndrome
  • Shprintzen Syndrome
  • Chromosome Abnormali
    : 2000-04-06
Available : Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
:
  • Fanconi Anemia
  • Autosomal or Sex Linked Recessive Genetic Disease
  • Genetic: human whole exome he

Active, not recruiting : The Effect of Conservative Interventions on the Signs and Symptoms of Diastasis Recti
: Diastasis Recti And Weakness Of The Linea Alba
: 2014-10-10
:
  • Other: Exercise therapy Superv
Completed : French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
: Kabuki Syndrome
: 2011-03-11
Completed : Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
:
  • Joubert Syndrome
  • Cerebello-oculo-renal Syndromes

: 2009-03-31
: Biological: Whole blood sample Whole blood sample (10 ml)
Next >>>