355 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 Enrolling by invitation Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
Conditions: Intellectual Disability;   Autism;   Multiple Congenital Anomalies
Interventions: Other: Enhanced Genomic Report;   Other: Routine Clinical Care
5 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
6 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
7 Recruiting Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
Conditions: Intellectual Disability;   Congenital Abnormalities
Intervention: Biological: Blood sampling
8 Recruiting Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
Conditions: Heterotaxy Syndrome;   Congenital Heart Defects
Intervention:
9 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
10 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
11 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
12 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
13 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
14 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
15 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
16 Recruiting Natural History and Genetics of Food Allergy and Related Conditions
Conditions: Food Allergy;   Loeys-Dietz Syndrome
Intervention:
17 Not yet recruiting Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes
Conditions: Noonan Syndrome;   LEOPARD Syndrome
Intervention:
18 Not yet recruiting A Study of RG1662 in Down Syndrome Among Children 6 to 11 Years of Age
Condition: Down Syndrome
Interventions: Drug: Placebo;   Drug: RG1662
19 Recruiting Feasibility and Dose Tolerability of HD-tDCS in Healthy Adults and Adults With Down Syndrome
Condition: Down Syndrome
Intervention: Device: High definition transcranial direct current stimulation
20 Completed Macronutrient Regulation of Ghrelin and Peptide YY
Conditions: Obesity;   Prader Willi Syndrome
Interventions: Other: High carbohydrate meal;   Other: High fat meal

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Indicates status has not been verified in more than two years