332 studies found for:    "Abnormalities, Multiple"
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Rank Status Study
1 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
2 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
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 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
9 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
10 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
11 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
12 Withdrawn Novel Treatment for Syndromic Ichthyoses
Conditions: Syndromic Ichthyoses;   CHILD Syndrome;   Smith Lemli Opitz Syndrome;   Conradi Syndrome
Intervention: Drug: Lovastatin
13 Completed Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
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 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
16 Recruiting Down Syndrome Metabolic Health Study
Conditions: Down Syndrome;   Trisomy 21
Intervention:
17 Recruiting Development of a Blood Test for Marfan Syndrome
Conditions: Marfan Syndrome;   Marfan Related Disorders;   Control Subjects
Intervention:
18 Active, not recruiting
Has Results
Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia
Conditions: Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome;   Acute Myeloid Leukemia/Transient Myeloproliferative Disorder;   Adult Acute Myeloid Leukemia in Remission;   Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities;   Adult Acute Myeloid Leukemia With Del(5q);   Adult Acute Myeloid Leukemia With Inv(16)(p13;q22);   Adult Acute Myeloid Leukemia With t(15;17)(q22;q12);   Adult Acute Myeloid Leukemia With t(16;16)(p13;q22);   Adult Acute Myeloid Leukemia With t(8;21)(q22;q22);   Childhood Acute Myeloid Leukemia in Remission;   Childhood Myelodysplastic Syndromes;   de Novo Myelodysplastic Syndromes;   Myelodysplastic Syndrome With Isolated Del(5q);   Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable;   Previously Treated Myelodysplastic Syndromes;   Recurrent Adult Acute Myeloid Leukemia;   Recurrent Childhood Acute Myeloid Leukemia;   Secondary Acute Myeloid Leukemia;   Secondary Myelodysplastic Syndromes
Interventions: Radiation: total-body irradiation;   Procedure: allogeneic hematopoietic stem cell transplantation;   Drug: cyclophosphamide;   Drug: mycophenolate mofetil;   Drug: busulfan;   Drug: cyclosporine;   Drug: fludarabine phosphate;   Procedure: peripheral blood stem cell transplantation;   Procedure: nonmyeloablative allogeneic hematopoietic stem cell transplantation;   Other: laboratory biomarker analysis;   Genetic: cytogenetic analysis;   Other: flow cytometry;   Genetic: fluorescence in situ hybridization;   Other: pharmacological study;   Genetic: polymorphism analysis;   Drug: tacrolimus;   Drug: methotrexate
19 Completed Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome
Condition: Marfan Syndrome
Interventions: Drug: Atenolol;   Drug: Losartan
20 Terminated Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
Conditions: Velo-cardio-facial Syndrome;   Psychosis
Interventions: Drug: Metyrosine;   Drug: Placebo

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Indicates status has not been verified in more than two years