322 studies found for:    "Abnormalities, Multiple"
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Rank Status Study
1 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
Intervention:
2 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
3 Completed The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Condition: Multiple Abnormalities
Intervention:
4 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
5 Available Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Conditions: Fanconi Anemia;   Autosomal or Sex Linked Recessive Genetic Disease;   Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.;   Hematopoiesis Maintainance.
Interventions: Genetic: human whole exome;   Genetic: whole genomic
6 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
7 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
8 Completed Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
Conditions: EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT;   CHROMOSOME 2q31.2 DELETION SYNDROME
Interventions: Drug: celiprolol;   Drug: Control
9 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
10 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
11 Completed Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Conditions: Joubert Syndrome;   Cerebello-oculo-renal Syndromes
Intervention: Biological: Whole blood sample
12 Terminated Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study
Condition: Keratosis Pilaris
Intervention: Drug: Salkera Emollient Foam
13 Completed A Non-Drug Study of The Suitability of Neurocognitive Tests And Functioning Scales For The Measurement of Cognitive And Functioning Changes in Individuals With Down Syndrome
Condition: Down Syndrome
Intervention:
14 Not yet recruiting Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
Conditions: Marfan Syndrome;   Loeys-Dietz Syndrome;   Thoracic Aortic Aneurysm and Dissection Syndromes;   Ehlers-Danlos Type IV Syndrome;   Turner Syndrome
Intervention:
15 Completed Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia
Condition: Hypohidrotic Ectodermal Dysplasia
Intervention:
16 Recruiting Phenotypic Specific Communication Intervention for Children With Down Syndrome
Conditions: Language Impairment;   Down Syndrome
Intervention: Behavioral: Jasper-EMT with words and AAC
17 Unknown  Down Syndrome and Continuous Positive Pressure Therapy
Conditions: Down Syndrome;   Obstructive Sleep Apnea Syndrome
Intervention: Device: Continuous Positive Pressure
18 Completed Reproduction and Survival After Cardiac Defect Repair
Conditions: Cardiovascular Diseases;   Heart Diseases;   Defect, Congenital Heart;   Aortic Valve Stenosis;   Transposition of Great Vessels;   Ductus Arteriosus, Patent;   Heart Septal Defects, Atrial;   Heart Septal Defects, Ventricular;   Down Syndrome;   Tetralogy of Fallot;   Pulmonic Stenosis;   Coarctation of Aorta
Intervention:
19 Completed Non-Invasive Screening for Fetal Aneuploidy
Conditions: Down Syndrome;   Edwards Syndrome
Intervention: Other: Maternal blood screening test for fetal aneuploidy
20 Completed Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Conditions: DiGeorge Syndrome;   Velocardiofacial Syndrome;   22q11.2 Syndrome
Intervention:

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Indicates status has not been verified in more than two years