Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes

Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities

NCT05714592 ·Status: UNKNOWN ·Phase: NA

Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions

NCT02077894 ·Status: RECRUITING

Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing

NCT02509650 ·Status: UNKNOWN

Genetics of Inherited Eye Disease

NCT02471287 ·Status: RECRUITING

Do Your Genes Put You at a Higher Risk of Developing Mesothelioma

NCT01590472 ·Status: COMPLETED

Genetic Analysis of Gray Platelet Syndrome

NCT00069680 ·Status: COMPLETED

Genetic Variation in Platelet Aggregation

NCT01576536 ·Status: COMPLETED

Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia

NCT00925236 ·Status: COMPLETED

Studies of Hereditary Hemorrhagic Telangiectasia

NCT00004648 ·Status: COMPLETED

Rare and Undiagnosed Disease Research Biorepository

NCT04703179 ·Status: ENROLLING_BY_INVITATION

Cancer Risk Assessment in Patients With a Constitutional Alteration of the PTEN Gene

NCT05630105 ·Status: SUSPENDED

Finding Genes for Rare Diseases

NCT02724995 ·Status: WITHDRAWN

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

NCT07204392 ·Status: RECRUITING

Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

NCT07075107 ·Status: RECRUITING ·Phase: NA

Mutations and Phenotypes of Unclassifiable Inherited Bone Marrow Failure Syndromes

NCT05436587 ·Status: RECRUITING

Study of Genotype and Phenotype in Patients With Alpha 1-Antitrypsin Deficiency

NCT00005098 ·Status: TERMINATED

Primary Hyperoxaluria Mutation Genotyping

NCT00589225 ·Status: COMPLETED

Role of Genetics in Idiopathic Pulmonary Fibrosis (IPF)

NCT01088217 ·Status: UNKNOWN

Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles

NCT00086476 ·Status: COMPLETED

Genetics of Uveitis

NCT02357238 ·Status: RECRUITING

Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions

NCT03160274 ·Status: RECRUITING

Genetic Analysis to Predict the Development of Paget's Disease

NCT05309954 ·Status: ACTIVE_NOT_RECRUITING

Experiences of Genetics Patients With Visible Abnormalities Who Facilitate Teaching in Genetics Clinics

NCT00341718 ·Status: COMPLETED

Genetic and Family Studies of Inherited Muscle Diseases

NCT00001331 ·Status: COMPLETED

Genetic Predictors of Outcome in HCM Patients

NCT00156429 ·Status: TERMINATED