Search clinical trials for: genotype phenotype correlation
Total 3212 results
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Fondazione IRCCS Ca' Granda, Ospedale Maggiore...Recruiting
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Great Ormond Street Hospital for Children NHS Foundation...National Institute for Health Research, United Kingdom; The Freya FoundationRecruitingPyruvate Dehydrogenase Complex Deficiency | Pyruvate Dehydrogenase E1 Alpha Deficiency | Pyruvate Dehydrogenase E1-Beta Deficiency | Pyruvate Dehydrogenase E2 Deficiency | Pyruvate Dehydrogenase Phosphatase DeficiencyUnited Kingdom
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Second Affiliated Hospital, School of Medicine,...RecruitingHereditary AtaxiaChina
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Istituto Ortopedico RizzoliRecruitingLi-Fraumeni Syndrome | Li-Fraumeni-Like SyndromeItaly
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Xinhua Hospital, Shanghai Jiao Tong University...Recruiting
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University Hospital MuensterUniversity of Pisa; Medical University of Vienna; Hacettepe University; Charite... and other collaboratorsRecruitingPrimary Ciliary Dyskinesia | Ciliary Motility DisordersGermany
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingVascular Diseases | Connective Tissue Diseases | Abnormal ElastogenesisUnited States
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Luca SangiorgiRecruiting
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University Hospital, MontpellierRecruitingGenetic Disease | Myopathy | Phenotypic AbnormalityFrance
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Jessa HospitalMaastricht University Medical Center; UZARecruitingVestibular Diseases | DFNA9Belgium
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National Heart, Lung, and Blood Institute (NHLBI)RecruitingSickle Cell | PKLR Variants | Adenosine Triphosphate ActivitiesUnited States
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Fondation Ophtalmologique Adolphe de RothschildRecruitingHereditary Retinal DystrophiesFrance
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University of Texas Southwestern Medical CenterMassachusetts General HospitalRecruitingDystonia | Dystonia; Idiopathic | Dystonia, Primary | Dystonia, Secondary | Dystonia, Familial | Dystonia Disorder | Dystonias, Sporadic | Dystonia; Orofacial | Dystonia Lenticularis | Dystonia, Paroxysmal | Dystonia 6 | Dystonia 5 | Dystonia 8 | Dystonia 9 | Dystonia 19 | Dystonia 10 | Dystonia 11 | Dystonia 20 | Dystonia 12 | Dystonia... and other conditionsUnited States
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Fondation Ophtalmologique Adolphe de RothschildRecruitingLimbus CorneaeFrance
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National Eye Institute (NEI)RecruitingAge-Related Macular Degeneration | Diabetic Retinopathy | Retinal Vein Occlusion | Retinal Disease | Von Hippel-Lindau SyndromeUnited States
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Insel Gruppe AG, University Hospital BernSwiss National Science Foundation; Mach Gaensslen Foundation; Baxalta Innovations...RecruitingThrombotic Thrombocytopenic Purpura | Congenital Thrombotic Thrombocytopenic Purpura | Familial Thrombotic Thrombocytopenic Purpura | Thrombotic Thrombocytopenic Purpura, Congenital | Upshaw-Schulman SyndromeUnited States, Austria, Czechia, Germany, Japan, Norway, Switzerland
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National Institute of Neurological Disorders and...Recruiting
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National Eye Institute (NEI)Active, not recruitingRetinitis Pigmentosa | Inherited Ophthalmic DiseasesUnited States
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Meyer Children's Hospital IRCCSActive, not recruitingChronic Kidney DiseasesItaly
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Eunice Kennedy Shriver National Institute of Child...CompletedOsteogenesis Imperfecta | Short StatureUnited States
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IRCCS Burlo GarofoloCompletedImmunity Disorders | Inborn Errors of ImmunityItaly
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Zhongshan Ophthalmic Center, Sun Yat-sen UniversityCompleted
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University Medical Centre LjubljanaUniversity of Ljubljana, Faculty of Medicine; National Institute of Chemistry... and other collaboratorsCompletedCTNNB1 Gene MutationSlovenia, Australia
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Taysha Gene Therapies, Inc.Withdrawn
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Stanford UniversityNational Heart, Lung, and Blood Institute (NHLBI); University of California... and other collaboratorsCompletedMuscular Dystrophy, DuchenneUnited States
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University Hospital Birmingham NHS Foundation TrustUniversity of Birmingham; Dystrophic Epidermolysis Bullosa Research Association...Enrolling by invitationJunctional Epidermolysis Bullosa | Laryngo Onycho Cutaneous SyndromeUnited Kingdom
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Institut National de la Santé Et de la Recherche...Assistance Publique - Hôpitaux de ParisCompletedSpinocerebellar Ataxias | Spastic ParaplegiasFrance
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Second Affiliated Hospital, School of Medicine,...Active, not recruitingSensorineural Hearing Loss | Enlarged Vestibular Aqueduct
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CENTOGENE GmbH RostockCompletedParkinson Disease | Idiopathic Parkinson DiseaseThailand, Germany
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Weill Medical College of Cornell UniversityNational Institute of Neurological Disorders and Stroke (NINDS); National Institutes... and other collaboratorsCompletedBatten Disease | Late Infantile Neuronal Ceroid LipofuscinosisUnited States
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Icahn School of Medicine at Mount SinaiNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); Rare... and other collaboratorsCompletedErythropoietic Protoporphyria | EPP | XLP | X-Linked Protoporphyria | XLPP | X-Linked Dominant Erythropoietic Protoporphyria | XLEPP | XLDPUnited States
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Eunice Kennedy Shriver National Institute of Child...CompletedUrogenital Abnormalities | Mental Retardation | Wilm's Tumor | WAGR Syndrome | AniridiaUnited States
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University of Mississippi Medical CenterMississippi State Department of HealthCompletedTrichomonas InfectionsUnited States
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National Institute of Environmental Health Sciences...CompletedDiabetes | Asthma | Heart DiseaseUnited States
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National Eye Institute (NEI)Completed
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Oslo University HospitalUniversity Hospital of North Norway; The Research Council of NorwayCompletedDuchenne Muscular DystrophyNorway
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National Human Genome Research Institute (NHGRI)Completed
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National Institute of Neurological Disorders and...Completed
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Alexandru EniuIuliu Hatieganu University of Medicine and PharmacyCompletedTo Determine the Prevalence, Penetrance of BRCA1 and BRCA2 Mutations in Romanian Womens With Breast or Ovarian CancerRomania
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Assistance Publique - Hôpitaux de ParisCompletedLeber Congenital AmaurosisFrance
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Centre Hospitalier Universitaire de NiceCompleted
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Weill Medical College of Cornell UniversityNathan's Battle FoundationCompletedBatten Disease | Late-Infantile Neuronal Ceroid Lipfuscinosis
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Association for Innovation and Biomedical Research...University of CoimbraCompletedType-2 Diabetic RetinopathyPortugal
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PATHUniversity of Oxford; Mahidol UniversityCompletedGlucose-6 Phosphate Dehydrogenase DeficiencyThailand
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Ain Shams UniversityUnknownGlucose-6-Phosphate Dehydrogenase DeficiencyEgypt
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University of PaviaFondazione Salvatore Maugeri; IRCCS Policlinico S. MatteoUnknown
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University Hospital, CaenUnknownOsteoarthritisFrance