321 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
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 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
9 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
10 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
11 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
12 Completed Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
13 Recruiting Treatment Trial of Subclinical Hypothyroidism in Down Syndrome
Conditions: Down Syndrome;   Subclinical Hypothyroidism
Intervention: Drug: Levothyroxine
14 Recruiting Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Condition: Usher Syndrome
Intervention:
15 Completed Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants
Conditions: Coronary Artery Disease;   Proteus Syndrome;   Coffin - Sins Syndrome;   Familial Isolated Hyperparathyroidism;   Dubouitz Syndrome
Intervention:
16 Recruiting A Double-blind, Placebo-controlled Comparative Study and Open-label Extension Study to Confirm the Efficacy and Safety of E2020 in Subjects With Down Syndrome Having Regression Symptoms and Disabled Activities of Daily Living.
Condition: Down Syndrome
Interventions: Drug: E2020-Donepezil hydrochloride;   Drug: Placebo
17 Completed The Intestinal Function in People With Prader-Willi Syndrome
Conditions: Prader-Willi Syndrome;   Constipation;   Incontinence
Intervention:
18 Completed Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia
Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia;   Exercise-induced Rise of Body Temperature
Intervention: Device: Skin cooling devices
19 Completed Augmentative and Alternative Communication (AAC) and Lexical Gain in Children With Down Syndrome
Condition: Down Syndrome
Intervention: Behavioral: speech-language therapy with AAC intervention
20 Recruiting Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies
Conditions: Down Syndrome;   Aneuploidy
Intervention: Other: Maternal blood draw of 30 to 50ml

   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