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Kliniske forsøg med Kromosom 1p36 deletionssyndrom
I alt 886 resultater
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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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The Champ FoundationChildren's Hospital of Philadelphia; The Cleveland ClinicRekrutteringPearsons syndrom | Single Large Scale Mitochondrial DNA Deletion Syndrome (SLSMDS)Forenede Stater
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National Institutes of Health Clinical Center (CC)AfsluttetMyelodysplastisk syndrom | 5q minus syndromForenede Stater
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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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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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Natera, Inc.Children's Hospital of Philadelphia; Montefiore Medical Center; University... og andre samarbejdspartnereAfsluttetPrader-Willi syndrom | DiGeorges syndrom | 22q11 deletionssyndrom | Angelman syndrom | Trisomi 21 | Trisomi 18 | Trisomi 13 | Monosomi X | Kønskromosomafvigelser | 1p36 deletionssyndrom | Cri-du-Chat syndromForenede Stater, Australien, Irland, Spanien, Sverige, Det Forenede Kongerige
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Swathi SethuramAfsluttet
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University of ArkansasSt. Christopher's Hospital for ChildrenAfsluttet
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Alexander KolevzonAfsluttetEpilepsi | Phelan-McDermid syndromForenede Stater
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Xiao-dong ZhuangSun Yat-sen UniversityUkendtTelomerlængde, gennemsnitlig leukocyt | Telomerafkortning | 22q Telomere Deletion Syndrome
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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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UMC UtrechtChildren's Hospital of Philadelphia; Netherlands Brain FoundationUkendtKromosom 22q11.2 deletionssyndromForenede Stater, Holland
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Boston Children's HospitalPhelan-McDermid Syndrome FoundationAfsluttetIntellektuel handicap | Autismespektrumforstyrrelse | Phelan-McDermid syndromForenede 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 HospitalEunice Kennedy Shriver National Institute of Child Health and Human Development... og andre samarbejdspartnereRekrutteringIntellektuel handicap | Autismespektrumforstyrrelse | 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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Instituto Valenciano de Infertilidad, IVI AlicanteIgenomix; IVI MurciaAfsluttetMandlig Sterilitet på grund af Y-kromosomdeletionerSpanien
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BiogenAfsluttetAngelman syndrom | Kromosom 15q duplikation (dup15q) syndromForenede Stater
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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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RTI InternationalUniversity of North Carolina, Chapel HillTilmelding efter invitationTuberøs sklerose | Downs syndrom | Duchennes muskeldystrofi | Prader-Willi syndrom | Fragilt X syndrom | Rett syndrom | Turners syndrom | Williams syndrom | Angelman syndrom | Kromosom 22q11.2 deletionssyndrom | Klinefelters syndrom | Phelan-McDermid syndrom | Dup15Q syndrom | Smith Magenis syndromForenede Stater
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Assistance Publique - Hôpitaux de ParisAventis PharmaceuticalsAfsluttetEHLERS-DANLOS SYNDROM, TYPE IV, AUTOSOMAL DOMINANT | KROMOSOM 2q31.2 SLETNINGSSYNDROM
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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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National Human Genome Research Institute (NHGRI)AfsluttetMental retardering | Søvnforstyrrelser, døgnrytme | Forsinkede udviklingsforstyrrelser | Kromosom sletning | Selvskadende adfærdForenede Stater
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Stephan EliezRekrutteringtACS | 22Q11 deletionssyndromSchweiz
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Zynerba Pharmaceuticals, Inc.Afsluttet22Q deletionssyndromForenede Stater, Australien
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Centre Hospitalier Universitaire de NīmesAfsluttet22q11 Deletionssyndrom Di George SyndromFrankrig
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University of WashingtonAfsluttetMandlig infertilitet | Klinefelters syndrom | Y-kromosom mikrodeletionerForenede Stater
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Innovation Research & TrainingRekruttering
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University Hospital TuebingenRekruttering
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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
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TESS Research FoundationStanford UniversityTilmelding efter invitationEpilepsi | Bevægelsesforstyrrelser | Sjældne sygdomme | Genetisk lidelse | Citrattransportørmangel | SLC13A5 mangel | EIEE25 | Kohlschutter-Tonz syndrom (ikke-ROGDI) | 17p13.1 Deletioner begrænset til SLC13A5-genet | Citrattransportør lidelseForenede Stater
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Hôpital le VinatierRekruttering
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University of Geneva, SwitzerlandAfsluttet22q11.2 DeletionssyndromSchweiz
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Hôpital le VinatierAfsluttet
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Nobias Therapeutics, Inc.Afsluttet
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Albert Einstein College of MedicineNational Heart, Lung, and Blood Institute (NHLBI)RekrutteringDiGeorges syndrom | 22q11.2 DeletionssyndromForenede Stater
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University of Geneva, SwitzerlandAfsluttet22q11.2 DeletionssyndromSchweiz
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Columbia UniversityUniversitat Autonoma de Barcelona; Instituto de Salud Carlos III; University... og andre samarbejdspartnereAktiv, ikke rekrutterendeThymidin Kinase 2 mangel | Mitokondriel DNA-udtømningssyndrom 2 Myopatisk typeForenede Stater
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Aevi Genomic Medicine, LLC, a Cerecor companyAfsluttet22q11.2 DeletionssyndromForenede Stater
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Duke UniversityNational Institute of Mental Health (NIMH); University of Pittsburgh; Harvard...Afsluttet22q11.2 Deletionssyndrom | Velo-cardio-ansigtssyndromForenede Stater
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State University of New York - Upstate Medical...Albert Einstein College of MedicineAfsluttet
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Mahidol UniversityAfsluttet22q11.2 Deletionssyndrom | ImmundefektThailand
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National Center for Research Resources (NCRR)Children's Hospital of PhiladelphiaUkendtAbnormiteter, multiple | DiGeorges syndrom | Kromosomabnormiteter | Conotruncal hjertefejl | Shprintzen syndromForenede Stater
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Children's Healthcare of AtlantaAfsluttet
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Clinical Research Associates, LLCRekruttering16P11.2 DeletionssyndromForenede Stater
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Bambino Gesù Hospital and Research InstituteNational Alliance for Research on Schizophrenia and Depression; OrygenUkendt22q11 deletionssyndromHelligstolen (Vatikanstaten)
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Hôpital le VinatierRekruttering22q11.2 DeletionssyndromFrankrig
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UMC UtrechtEindhoven University of TechnologyRekruttering22q11.2 Deletionssyndrom | Teenagers idiopatisk skolioseHolland