363 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
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 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
10 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
11 Unknown  French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
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
Interventions: Drug: celiprolol;   Drug: Control
16 Not yet recruiting Rocky Mountain Alzheimer's Disease Center Longitudinal Biomarker and Clinical Phenotyping Study
Conditions: Alzheimer Disease;   Down Syndrome;   Mild Cognitive Impairment
Intervention: Other: No Intervention(s)
17 Recruiting Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome
Condition: Proteus Syndrome
Intervention: Drug: ARQ 092
18 Recruiting Weight Management for Adolescents With IDD
Conditions: Developmental Disabilities;   Weight Loss;   Body Weight;   Down Syndrome;   Body Weight Changes;   Intellectual Disability
Interventions: Dietary Supplement: Enhanced Stop Light Diet (eSLD);   Dietary Supplement: Conventional Diet (CD);   Behavioral: Face-to-face (FTF);   Behavioral: Technology (TECH);   Other: iPad with FaceTime
19 Recruiting Non-Invasive Chromosomal Evaluation of 22q11.2
Condition: DiGeorge Syndrome, Velocardiofacial Syndrome, 22q.11.2 Deletion Syndrome
20 Completed A Brain Imaging Study to Assess GABAA Receptor Alpha5 Subunit Occupancy Following a Single Dose of RO5186582 in Japanese Healthy Volunteers.
Condition: Healthy Volunteer, Down Syndrome
Intervention: Drug: RO5186582

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Indicates status has not been verified in more than two years