396 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 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
Intervention:
9 Completed Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
10 Unknown  French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
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
Conditions: EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT;   CHROMOSOME 2q31.2 DELETION SYNDROME
Interventions: Drug: celiprolol;   Drug: Control
15 Recruiting Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom
Condition: Trisomy 21
Intervention: Genetic: Diagnostic
16 Recruiting The Human Trisome Project Biobank
Conditions: Down Syndrome;   Trisomy 21
Intervention:
17 Recruiting Neurocognitive and Psychosocial Outcomes in Survivors of Childhood Leukemia With Down Syndrome
Conditions: Leukemia;   Down Syndrome
Intervention:
18 Not yet recruiting Cannabidiol Oral Solution for The Treatment of Subjects With Prader-Willi Syndrome
Condition: Prader-Willi Syndrome
Interventions: Drug: Cannabidiol;   Drug: Placebo
19 Recruiting Wolfram Syndrome International Registry and Clinical Study
Conditions: Wolfram Syndrome;   Diabetes Mellitus;   Optic Nerve Atrophy;   Deafness;   Diabetes Insipidus;   Ataxia
Intervention:
20 Recruiting Register of Patients With Prader-Willi Syndrome
Condition: Prader-Willi Syndrome
Intervention: Other: Data collection

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Indicates status has not been verified in more than two years