Kliniske forsøg med Kromosom 1q21.1 Duplikationssyndrom
I alt 867 resultater
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BiogenAfsluttetAngelman syndrom | Kromosom 15q duplikation (dup15q) syndromForenede Stater
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Simons SearchlightBoston Children's Hospital; Geisinger Clinic; Simons FoundationRekrutteringSMARCA4 genmutation | DDX3X | 16P11.2 Deletionssyndrom | 16p11.2 Duplikationer | 1Q21.1 Sletning | 1Q21.1 mikroduplikationssyndrom (lidelse) | ACTL6B | ADNP | AHDC1 | ANK2 | ANKRD11 | ARID1B | ASH1L | BCL11A | CHAMP1 | CHD2 | CHD8 | CSNK2A1 | CTBP1 | CTNNB1-genmutation | CUL3 | DNMT3A | DSCAM | DYRK1A | FOXP1 | GRIN2A | GRIN2B | HIVEP2-relateret intellektuel... og andre forholdForenede Stater
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Washington University School of MedicineDickson, Patricia I., M.D.; Milbrandt, Jeffrey, MD, PhD; Mitra, Rob, PhD; Turner...RekrutteringKromosom 9P deletionssyndrom | 9p minus syndrom | Alfi syndrom | 9P Monosomi | 9P partielt monosomisyndromForenede Stater
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National Institutes of Health Clinical Center (CC)AfsluttetMyelodysplastisk syndrom | 5q minus syndromForenede Stater
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Neuren Pharmaceuticals LimitedAktiv, ikke rekrutterendePhelan-McDermid syndromForenede Stater
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Alexander KolevzonAfsluttetPhelan-McDermid syndromForenede Stater
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Affiliated Hospital of Jiangnan UniversityAfsluttetVæksthormonbehandling | Phelan-McDermid syndromKina
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Peter L GreenbergThe Leukemia and Lymphoma SocietyAfsluttetMyelodysplastiske syndromerForenede Stater
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Onconova Therapeutics, Inc.AfsluttetMyelodysplastisk syndromForenede Stater
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Swathi SethuramAfsluttet
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Icahn School of Medicine at Mount SinaiNational Institute of Mental Health (NIMH)AfsluttetPhelan-McDermid syndrom | 22q13 deletionssyndromForenede Stater
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University of ArkansasSt. Christopher's Hospital for ChildrenAfsluttet
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Onconova Therapeutics, Inc.AfsluttetMyelodysplastisk syndrom | MDS | Trisomi 8Forenede Stater
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Alexander KolevzonAfsluttetEpilepsi | Phelan-McDermid syndromForenede Stater
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Rush University Medical CenterEmory UniversityTilmelding efter invitationTuberøs sklerose | Fragilt X syndrom | Rett syndrom | Hamartoma syndrom, multipel | Angelman syndrom | Kreatinmangel, X-bundet | Telomerisk 22Q13 Monosomy Syndrome | Kromosom 15Q, delvis sletningForenede Stater
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Antonio PersicoUniversity of Bari; Associazione Italiana Sindrome di Phelan-McDermid (AISPHEM)Tilmelding efter invitationAutismespektrumforstyrrelse | Phelan-McDermid syndromItalien
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University of Colorado, DenverRekrutteringKlinefelters syndrom | Trisomi X | XYY syndrom | XXXY og XXXXY syndrom | Xxyy syndrom | Xyyy syndrom | Xxxx syndrom | Xxxxx syndrom | Xxxyy syndrom | Xxyyy syndrom | Xyyyy syndrom | Mand med sexkromosommosaicismeForenede Stater
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Icahn School of Medicine at Mount SinaiNational Institute of Neurological Disorders and Stroke (NINDS)Tilmelding efter invitationAutismespektrumforstyrrelse (ASD) | Phelan-McDermid syndromForenede Stater
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Boston Children's HospitalPhelan-McDermid Syndrome FoundationAfsluttetIntellektuel handicap | Autismespektrumforstyrrelse | Phelan-McDermid syndromForenede Stater
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Boston Children's HospitalAfsluttet
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Eastern Mediterranean UniversityAfsluttetDowns syndrom, trisomi 21Cypern
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Boston Children's HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereRekrutteringIntellektuel handicap | Autismespektrumforstyrrelse | Phelan-McDermid syndromForenede Stater
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Women and Infants Hospital of Rhode IslandSequenom, Inc.AfsluttetDowns syndrom | Trisomi 21Forenede Stater, Canada, Israel, Ungarn, Irland, Argentina, Australien, Tjekkiet, Italien, Spanien
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Advocate Health CareAfsluttetDowns syndrom | Trisomi 21Forenede Stater
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University of WashingtonRekrutteringDowns syndrom | Trisomi 21Forenede Stater
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Universidad Autonoma de San Luis PotosíUkendt
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Natera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Kønskromosomafvigelser | MikrodeletionssyndromerForenede Stater
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Natera, Inc.AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | Kønskromosomafvigelser | MikrodeletionssyndromerForenede Stater, Spanien, Taiwan
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Centre Hospitalier Universitaire de la RéunionRekruttering
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Children's Hospital of PhiladelphiaEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereAfsluttet
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University of Colorado, DenverNational Center for Advancing Translational Sciences (NCATS); Linda Crnic... og andre samarbejdspartnereRekruttering
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University Hospital, GrenobleAfsluttet
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Progenity, Inc.AfsluttetDowns syndrom | Aneuploidi | DiGeorges syndrom | Turners syndrom | Klinefelters syndrom | Kromosom sletning | Edwards syndrom | Patau syndromForenede Stater
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Assistance Publique - Hôpitaux de ParisInstitut National de la Santé Et de la Recherche Médicale, France; University... og andre samarbejdspartnereAktiv, ikke rekrutterende
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Central Hospital, Nancy, FranceUkendt
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Roche Sequencing SolutionsAfsluttet
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University Hospital, CaenAfsluttet
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Roche Sequencing SolutionsPerinatal Quality Foundation: Nuchal Translucency Quality ReviewAfsluttetTrisomi 21Forenede Stater, Belgien, Holland, Sverige, Italien, Canada
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CHU de Quebec-Universite LavalRekrutteringBeslutningsstøtteCanada
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Sequenom, Inc.AfsluttetDowns syndrom | Aneuploidi | Ikke-invasiv prænatal screeningForenede Stater
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University of PennsylvaniaSequenom, Inc/Laboratory Corporation of America HoldingsAfsluttet
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University of WashingtonAfsluttetMandlig infertilitet | Klinefelters syndrom | Y-kromosom mikrodeletionerForenede Stater
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Assistance Publique - Hôpitaux de ParisAfsluttetTrisomi 21 - TranslokationFrankrig
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BioCeryxUniversity of British Columbia; University College London Hospitals; Brugmann... og andre samarbejdspartnereUkendtTrisomi 21 og anden føtal aneuploidiAustralien, Det Forenede Kongerige, Spanien, Canada, Belgien, Portugal
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Natera, Inc.Houston Perinatal Associates; Lyndhurst Clinical Research; Dr. Carpenter... og andre samarbejdspartnereAfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | KønskromosomafvigelserForenede Stater, Indien, Malaysia
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Natera, Inc.Montefiore Medical Center; Tufts Medical Center; MOUNT SINAI HOSPITAL; Long...AfsluttetTrisomi 21 | Trisomi 18 | Trisomi 13 | KønskromosomafvigelserForenede Stater
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Women and Infants Hospital of Rhode IslandPerkinElmer, Inc.AfsluttetDowns syndrom | Trisomi 18 | Trisomi 13Forenede Stater, Canada, Italien
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M.D. Anderson Cancer CenterNational Cancer Institute (NCI)RekrutteringAkut myeloid leukæmi | Højrisiko Myelodysplastisk Syndrom | Blastfase kronisk myelogen leukæmi, BCR-ABL1 positiv | Philadelphia kromosom positiv | Myeloproliferativ neoplasma | Myeloid sarkom | Sprænger 10 procent eller mere af knoglemarvskerneholdige cellerForenede Stater