Now Available: Final Rule for FDAAA 801 and NIH Policy on Clinical Trial Reporting
409 studies found for:    "Abnormalities, Multiple"
Show Display Options
Rank Status Study
1 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
2 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
3 Completed The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Condition: Multiple Abnormalities
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
6 Unknown  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
9 Completed Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
10 Unknown  French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
11 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
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 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
14 Completed Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
Interventions: Drug: celiprolol;   Drug: Control
15 Completed Global Behavior and Periodontal Disease in Down's Syndrome Patients
Conditions: Behavior;   Periodontal Diseases
Intervention: Behavioral: Behavior Analysis
16 Completed Antimicrobial Photodynamic Therapy as an Adjunct Treatment for Periodontal Disease in Down's Syndrome Patients
Condition: Periodontal Diseases
Interventions: Procedure: Antimicrobial photodynamic therapy;   Procedure: Scaling and root planning;   Device: red laser;   Drug: methylene blue dye
17 Not yet recruiting FibroScan™ in Pediatric Cholestatic Liver Disease Study Protocol
Conditions: Biliary Atresia;   Alagille Syndrome;   Alpha1 Anti-Trypsin Deficiency;   Portal Hypertension;   Liver Fibrosis;   Cholestasis
Intervention: Other: Liver Stiffness Measurement (LSM)
18 Not yet recruiting Ixazomib Citrate, Lenalidomide, and Dexamethasone in Treating Patients With POEMS Syndrome
Conditions: Plasmacytoma;   POEMS Syndrome
Interventions: Drug: Dexamethasone;   Drug: Ixazomib Citrate;   Other: Laboratory Biomarker Analysis;   Drug: Lenalidomide;   Other: Questionnaire Administration
19 Not yet recruiting Ability of a Molecule (Prima) to Restore Physiological Differentiation in Epithelium Expressing Gene p63
Condition: Ectodermal Dysplasia
20 Recruiting Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
Condition: 22q11.2 Deletion Syndrome
Interventions: Drug: NFC-1;   Drug: Placebo

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years