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National Human Genome Research Institute (NHGRI)50 Protocols (37 Active Accrual of new subjects, 13 Follow-up of previously enrolled subjects)
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09-HG-0035:
Clinical, Cellular, and Molecular Investigation into Oculocutaneous Albinism
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09-HG-0009:
Participant Reactions to Disease Risk Information
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08-HG-0224:
Clinical and Genetic Studies of VACTERL Association
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08-HG-0122:
Patient-Provider Communication and Interaction in a Virtual Clinical Setting
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08-HG-0059:
Studies of Skin Microflora in Healthy Individuals and Atopic Dermatitis Patients
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07-HG-0132:
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
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07-HG-0076:
A Phase One Treatment Trial of the Circadian Sleep Disturbance in Smith-Magenis Syndrome (SMS)
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07-HG-0002:
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
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06-HG-0134:
Natural History and Biology of Dermal Neurofibromas in Neurofibromatosis Type 1
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05-HG-0152:
Variation in Gene Expression in Neurofibromatosis Type 1
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05-HG-0131:
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
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04-HG-0226:
Investigations of Megakaryocytes from Patients with Abnormal Platelet Vesicles
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04-HG-0211:
Specimen Procurement from Individuals with Pulmonary Fibrosis
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04-HG-0127:
Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders
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04-HG-0123:
Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics
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04-HG-0093:
Clinical and Genetic Studies on Holoprosencephaly
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03-HG-0313:
Genetic Analysis of Gray Platelet Syndrome
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03-HG-0264:
Clinical Investigations into the Kidney and Liver Disease in Autosomal Recessive Polycystic Kidney Disease/Congenital Hepatic Fibrosis and other Ciliopathies
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01-HG-0189:
Treatment of SCID due to ADA Deficiency with Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced with a Human ADA Gene
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01-HG-0109:
Natural History Study of the Clinical and Molecular Manifestations of Smith-Magenis Syndrome (SMS)
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01-HG-0106:
National Human Genome Research Institute Training Protocol
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01-HG-0094:
Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders
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00-HG-0209:
Molecular and Clinical Studies of Primary Immunodeficiency Diseases
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00-HG-0153:
Investigations into Chediak-Higashi Syndrome and Related Disorders
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00-HG-0141:
Clinical, Biochemical, and Molecular Investigations into Alkaptonuria
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00-HG-0058:
Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD)
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98-HG-0249:
Genetic Analysis of Brain Disorders
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97-HG-0192:
Genetic Studies in the Amish and Mennonites
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97-HG-0085:
Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
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95-HG-0193:
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome
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95-HG-0165:
Outcomes of Education and Counseling for HNPCC Testing
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95-HG-0158:
Genetic Analysis of Hereditary Prostate Cancer
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94-HG-0193:
Genetic and Clinical Studies of Congenital Anomaly Syndromes
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94-HG-0132:
The Phenotype and Etiology of Proteus Syndrome
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86-HG-0096:
Studies of Genetic Heterogeneity in Patients with Lysosomal Storage Disorders
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78-HG-0093:
Use of Cysteamine in the Treatment of Cystinosis
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76-HG-0238:
Diagnosis and Treatment of Patients with Inborn Errors of Metabolism
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07-HG-0204:
Deliberation with and without Attention: Can We Enhance Informed Choices about Invasive Prenatal Testing? A Proof of Principle Study
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06-HG-0148:
Identity, Ancestry and Genetics: Patients' Perspectives
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06-HG-0143:
Using Virtual Reality to Test Communication Strategies for Genomic Concepts
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06-HG-0055:
Functional Imaging in Subjects with Glucocerebrosidase Mutations
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05-HG-0236:
Pilot Study of the Use of Intravenous Immune Globulin in Hereditary Inclusion Body Myopathy
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05-HG-0076:
Long-Term Clinical Trial of Nitisinone in Alkaptonuria
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05-HG-0004:
Clinical Investigations into Hutchison-Gilford Progeria Syndrome
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01-HG-0095:
Mutation Detection for Lowe Syndrome
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00-HG-0223:
Decisions of Female Adolescents about Carrier Testing in Families with X-Linked Severe Combined Immunodeficiency (XSCID)
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00-HG-0191:
Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy with Neuroserpin Inclusion Bodies
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99-HG-0056:
Pulmonary Fibrosis Associated with Rheumatoid Arthritis: Definition of the Natural History of Disease
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97-HG-0173:
Gene Analysis in Parkinson's Disease
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97-HG-0078:
Genetic Analysis of Parkinson's Disease
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