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Total 2498 results
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CENTOGENE GmbH RostockWithdrawnSeizures | Mental Retardation | Hepato-splenomegaly | Dysostosis MultiplexEgypt, Germany, India, Sri Lanka
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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion SyndromesUnited States, Spain, Taiwan
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bluebird bioTerminatedCerebral Adrenoleukodystrophy (CALD) | Adrenoleukodystrophy (ALD) | X-Linked Adrenoleukodystrophy (X-ALD)United States, United Kingdom, Argentina, Canada, Germany, Italy, Netherlands
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IpsenCompletedCervical DystoniaFrance, Belgium, Czechia, Australia, Poland, Portugal, Ukraine, Hungary, Russian Federation, Austria, Germany
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Johns Hopkins UniversityNorth American Spine SocietyCompletedLumbar Spinal Stenosis | Lumbar Spine Degeneration | Lumbar Spinal InstabilityUnited States
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Minoryx Therapeutics, S.L.RecruitingX-linked AdrenoleukodystrophyFrance
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Massachusetts General HospitalEuropean Leukodystrophy AssociationRecruitingRestless Legs Syndrome | AdrenoleukodystrophyUnited States, Netherlands
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Viking Therapeutics, Inc.RecruitingAdrenomyeloneuropathy Form (AMN) of X-linked Adrenoleukodystrophy (X-ALD)United States, France, Germany, Italy, United Kingdom
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Sangamo TherapeuticsActive, not recruitingHemophilia B | Mucopolysaccharidosis I | Mucopolysaccharidosis IIUnited States
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Minoryx Therapeutics, S.L.Active, not recruitingCerebral AdrenoleukodystrophySpain, Germany, France, Argentina
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Holland Bloorview Kids Rehabilitation HospitalThe Hospital for Sick Children; University of Toronto; University of Ottawa; Social... and other collaboratorsCompletedCerebral Palsy | Muscular Dystrophy | Physical Disability | Spinal Cord Injury | Spina Bifida | Juvenile ArthritisCanada
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University Hospital, MontpellierAgence de La BiomédecineActive, not recruitingFragile X Syndrome | Huntington Disease | Myotonic Dystrophy 1France
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Natera, Inc.CompletedTrisomy 21 | Trisomy 18 | Trisomy 13 | Sex Chromosome Abnormalities | Microdeletion SyndromesUnited States
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Thomas S. ScanlanWithdrawnAdrenomyeloneuropathy | X-Linked AdrenoleukodystrophyUnited States
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Mahidol UniversityCompletedSubacromial Impingement Syndrome | Shoulder Impingement Syndrome | Subacromial Pain Syndrome | Subacromial Impingement | Impingement Syndrome, ShoulderIndonesia
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National Heart, Lung, and Blood Institute (NHLBI)CompletedHeart Diseases | Cardiovascular Diseases | Aortic Valve Stenosis | Heart Septal Defects, Atrial | Down Syndrome | Tetralogy of Fallot | Pulmonic Stenosis | Transposition of Great Vessels | Heart Septal Defects, Ventricular | Ductus Arteriosus, Patent | Coarctation of Aorta | Defect, Congenital Heart
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Verinata Health, Inc.CompletedPregnancy | Down Syndrome | Edwards Syndrome | Patau Syndrome | Turners SyndromeUnited States
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Oslo University HospitalUniversity of Oslo; Ullevaal University Hospital; University Hospital, AkershusWithdrawnMicrocephaly | Hearing Loss | Mental Retardation | ChorioretinitisNorway
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CENTOGENE GmbH RostockTerminatedDeafness | Immunodeficiency | Mental Retardation | Gingival Hypertrophy | Skeletal Abnormalities | Facial DysmorphismGermany, Switzerland
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University of MichiganNational Heart, Lung, and Blood Institute (NHLBI); National Institutes of Health...RecruitingObstructive Sleep Apnea | Down Syndrome | Tolerance | Trisomy 21 | Hypertonia, Muscle | Nasal Airway ObstructionUnited States
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Shenzhen Second People's HospitalGuangzhou Women and Children's Medical Center; Shenzhen UniversityRecruitingAdrenoleukodystrophy | Metachromatic LeukodystrophyChina
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Gillette Children's Specialty HealthcareCompletedCerebral Palsy | Muscular Dystrophy | Osteopenia | Rett Syndrome | Spinal Muscular Atrophy | Spina BifidaUnited States
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The Chaim Sheba Medical CenterRecruitingFragile X Syndrome | Williams Syndrome | Velocardiofacial SyndromeIsrael
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University of Sao PauloUnknown
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Assistance Publique - Hôpitaux de ParisRecruitingAdrenoleukodystrophy | Adrenomyeloneuropathy | Metachromatic Leukodystrophy | Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented GliaFrance
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Masonic Cancer Center, University of MinnesotaTerminatedSickle Cell Disease | Thalassemia | Cerebral Adrenoleukodystrophy | Inherited Metabolic Disorders | High Risk Hematologic DisordersUnited States
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Rush University Medical CenterEmory UniversityEnrolling by invitationTuberous Sclerosis | Fragile X Syndrome | Rett Syndrome | Hamartoma Syndrome, Multiple | Angelman Syndrome | Creatine Deficiency, X-linked | Telomeric 22Q13 Monosomy Syndrome | Chromosome 15Q, Partial DeletionUnited States
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Institute for Neurodegenerative DisordersCompletedParkinson Disease | Alzheimer Disease | Mild Cognitive Impairment | Fragile X Syndrome | Huntington Disease | Autistic Spectrum DisordersUnited States
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National Cancer Institute (NCI)Childrens Oncology Group (COG); LLS PedAL LLCRecruitingDown Syndrome | Recurrent Acute Myeloid Leukemia | Recurrent Myelodysplastic Syndrome | Refractory Acute Myeloid Leukemia | Refractory Myelodysplastic Syndrome | Recurrent Mixed Phenotype Acute Leukemia | Refractory Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic...United 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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Universitaire Ziekenhuizen KU LeuvenKU LeuvenUnknownObesity | Healthy Volunteers | Prader-Willi Syndrome | Muscle Hypotonia | Hypotonia-Cystinuria Syndrome | Dwarfism, Growth Hormone DeficiencyBelgium
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Sequenom, Inc.CompletedTurner Syndrome | Down Syndrome (Trisomy 21) | Patau Syndrome (Trisomy 13) | Edwards Syndrome (Trisomy 18)United States
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Richard FryeAutism Discovery and Treatment FoundationRecruitingEpilepsy | Neurodevelopmental Disorders | Autism Spectrum Disorder | Down Syndrome | Mitochondrial Encephalomyopathies | Pediatric Acute-Onset Neuropsychiatric Syndrome | Cerebral Folate Deficiency | Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal InfectionUnited States
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Institut National de la Santé Et de la Recherche...RecruitingPrader-Willi Syndrome | Angelman Syndrome | Beckwith-Wiedemann Syndrome | Pseudohypoparathyroidism | Silver Russell Syndrome | Transient Neonatal Diabetes Mellitus | Temple Syndrome | Kagami-Ogata Syndrome | Familial Precocious PubertyFrance
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Hugo W. Moser Research Institute at Kennedy Krieger...RecruitingNeurodegenerative Diseases | Ataxia | Cerebellar Ataxia | Leukodystrophy | Adrenomyeloneuropathy | LBSL | Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation | Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)United States
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Stephen G. Kaler, MDRecruitingMenkes Disease | Occipital Horn SyndromeUnited States
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Jakub AntczakCompletedAdrenomyeloneuropathy | Hereditary Spastic ParaplegiaPoland
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Progenity, Inc.UnknownDown Syndrome | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Edwards Syndrome | Patau Syndrome | Perinatal InfectionsUnited States
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Institut National de la Santé Et de la Recherche...RecruitingMucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Mucopolysaccharidosis III | Mucopolysaccharidosis IV | Mucopolysaccharidosis VII | Multiple Sulfatase Deficiency Disease | Mucopolysaccharidosis IXFrance
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ProgenaBiomeRecruitingAutism Spectrum Disorder | Autistic Disorder | Autism | Autism, Akinetic | Autism; Atypical | Autism; Psychopathy | Autism Fragile Syndrome X | Autism With High Cognitive Abilities | Autism-Related Speech Delay | Autism, Susceptibility to, 6 | Autism Spectrum Disorder High-Functioning | Autistic Thinking | Autism... and other conditionsUnited States
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Children's Oncology GroupNational Cancer Institute (NCI)Active, not recruitingAcute Lymphoblastic Leukemia | Down Syndrome | Philadelphia Chromosome Positive | Childhood B Acute Lymphoblastic Leukemia With t(9;22)(q34.1;q11.2); BCR-ABL1 | Childhood B Acute Lymphoblastic Leukemia | Adult B Lymphoblastic Lymphoma | Ann Arbor Stage I B Lymphoblastic Lymphoma | Ann Arbor Stage... and other conditionsUnited States, Canada, Puerto Rico, Australia, New Zealand, Switzerland, Ireland
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Lenetix Medical Screening LaboratoryUnknownDown Syndrome (Trisomy 21) | Edward's Syndrome (Trisomy 18) | Patau Syndrome (Trisomy 13) | Klinefelter Syndrome (47, XXY) | and Other Chromosome | Abnormalities.United States
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National Institute of Neurological Disorders and...Baylor College of MedicineCompletedPrader-Willi Syndrome | DiGeorge Syndrome | Williams Syndrome | Angelman Syndrome | Smith-Magenis Syndrome | Chromosome Abnormalities | Shprintzen SyndromeUnited States
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LLS PedAL Initiative, LLCNational Cancer Institute (NCI); Children's Oncology GroupRecruitingAcute Myeloid Leukemia | Juvenile Myelomonocytic Leukemia | Acute Lymphoblastic Leukemia | Myelodysplastic Syndrome | Myeloid Leukemia Associated With Down Syndrome | Mixed Phenotype Acute Leukemia | Acute Myeloid Leukemia Post Cytotoxic Therapy | Myelodysplastic Syndrome Post Cytotoxic TherapyUnited States, Canada, Australia, Puerto Rico, New Zealand
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University College CorkNot yet recruitingGestational Diabetes | Neonatal Encephalopathy | Diastolic Dysfunction | Trisomy 21 | Transient Tachypnea of the Newborn | Small for Gestational Age at DeliveryIreland
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University of North Carolina, Chapel HillNational Human Genome Research Institute (NHGRI); East Carolina University; Mission...Active, not recruitingNeuromuscular Diseases | Movement Disorders | Intellectual Disability | Autism Spectrum Disorder | Microcephaly | Hearing Loss | Genetic Disease | Inborn Errors of Metabolism | Epilepsy; Seizure | Brain Malformation | Hypotonia | Development Delay | Chromosome Abnormality | Dysmorphic Features | Skeletal Dysplasia | Congenital... and other conditionsUnited States
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Progenity, Inc.CompletedDown Syndrome | Aneuploidy | DiGeorge Syndrome | Turner Syndrome | Klinefelter Syndrome | Chromosome Deletion | Edwards Syndrome | Patau SyndromeUnited States
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University of ChicagoNational Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); National... and other collaboratorsCompletedKrabbe Disease | Mucopolysaccharidosis Type II (MPS II) | Mucopolysaccharidosis Type I (MPS I) | Mucopolysaccharidosis Type III (MPS III) | Mucopolysaccharidosis Type VI (MPS VI)United States
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University of California, San FranciscoRecruitingMucopolysaccharidosis I | Mucopolysaccharidosis II | Mucopolysaccharidosis VI | Wolman Disease | Pompe Disease Infantile-Onset | Mucopolysaccharidosis IV A | Mucopolysaccharidosis VII | Neuronopathic Gaucher DiseaseUnited States
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University of Milano BicoccaComitato Maria Letizia Verga,ItalyRecruitingLymphoma, Non-Hodgkin | Leukemia, Myeloid, Acute | Leukemia, B-cell | Adrenoleukodystrophy | Lymphoma, Hodgkin | Thalassemia Major | Leukemia, T Cell | DrepanocytosisItaly