Kliniske forsøg med Jacobsen Distal 11q deletionssyndrom
I alt 370 resultater
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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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dr. Laura C. G. de Graaff-HerderRekrutteringForstyrrelser i seksuel udvikling | Medfødt binyrehyperplasi | Tuberøs sklerose | Kallmanns syndrom | Prader-Willi syndrom | Neurofibromatose | Rett syndrom | 22q11 deletionssyndrom | Turners syndrom | Noonans syndrom | Allan-Herndon-Dudley syndrom | Saethre-Chotzen syndrom | Medfødt hypopituitarisme | Cornelia de Langes... og andre forholdHolland
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Freeman-Sheldon Research Group, Inc.AfsluttetKraniofaciale abnormiteter | Arthrogryposis | Freeman-Sheldon syndrom | Arthrogryposis Distal Type 2A | Whistling Face Syndrome | Kraniocarpotarsal dysplasi | Kraniocarpotarsal dystrofi | Freeman-Sheldon syndrom variant | Sheldon-Hall syndrom | Arthrogryposis Distal Type 2B | Gordon syndrom | Arthrogryposis Distal... og andre forholdForenede Stater
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Xiao-dong ZhuangSun Yat-sen UniversityUkendtTelomerlængde, gennemsnitlig leukocyt | Telomerafkortning | 22q Telomere Deletion Syndrome
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Assistance Publique - Hôpitaux de ParisAssociation de Neuro-Oncologues d'Expression FrancaiseAktiv, ikke rekrutterendeAnaplastiske gliomer med 1p/19q kodeletionFrankrig
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TakedaOvid Therapeutics Inc.Afsluttet15q Duplikationssyndrom | CDKL5-mangelsygdomForenede Stater
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BiogenAfsluttetAngelman syndrom | Kromosom 15q duplikation (dup15q) syndromForenede Stater
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Taipei Veterans General Hospital, TaiwanUkendt
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Dufresne, Craig, MD, PCRekrutteringFreeman-Sheldon syndrom | Whistling Face Syndrome | Freeman-Sheldon syndrom variant | Sheldon-Hall syndrom | Gordon syndrom | Arthrogryposis Distal Type 3 | Arthrogryposis Distal Type 1 | Freeman-Burian syndromForenede Stater
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Massachusetts General HospitalNational Cancer Institute (NCI)Aktiv, ikke rekrutterendeGliom af lav grad | WHO Grade 3 Gliom med IDH1-mutation | WHO Grade 3 Gliom Med 1p/19q CodeletionForenede 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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University of California, San FranciscoNational Institute on Aging (NIA)Afsluttet
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Tel-Aviv Sourasky Medical CenterRekrutteringCreutzfeldt-Jakobs sygdom (CJD)Israel
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Cairo UniversityUkendtDental bevidsthed om sammenhængen mellem systemisk sygdom og orale sundhedstilstande
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Massachusetts General HospitalSuspenderetKarpaltunnelsyndrom | Trapeziometacarpal artrose | Aftrækkerfinger | Distale radiusfrakturer | Cubitalt tunnelsyndromForenede 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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Massachusetts General HospitalBroad InstituteRekrutteringPrionsygdomme | Familiær fatal søvnløshed | CJD (Creutzfeldt Jakobs sygdom) | GSS | FFIForenede 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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Peking University Third HospitalCenters for Disease Control and Prevention, ChinaAfsluttetCreutzfeldt Jakobs sygdom
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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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Clinical Research Associates, LLCRekruttering16P11.2 DeletionssyndromForenede 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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Stanford UniversityTrukket tilbageGanglioncyster | Karpaltunnelsyndrom | Distal Radius Fraktur | Aftrækkerfinger | Fingerbrud | De Quervains syndromForenede Stater
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Cairo UniversityAfsluttetNøjagtighed af tandfarvevalg i den æstetiske zoneEgypten
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Centre Hospitalier Universitaire de NīmesAfsluttet22q11 Deletionssyndrom Di George SyndromFrankrig
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Stephan EliezRekrutteringtACS | 22Q11 deletionssyndromSchweiz
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Zynerba Pharmaceuticals, Inc.Afsluttet22Q deletionssyndromForenede Stater, Australien
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Tecnologico de MonterreyAfsluttetProksimalt intestinalt obstruktionssyndrom (PIOS) hos en patient med cystisk fibrose: et nyt syndromCystisk fibrose | Tarmobstruktion | Distalt tarmobstruktionssyndromMexico
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UMC UtrechtChildren's Hospital of Philadelphia; Netherlands Brain FoundationUkendtKromosom 22q11.2 deletionssyndromForenede Stater, Holland
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Sidney Kimmel Cancer Center at Thomas Jefferson...Celgene CorporationAfsluttetMyelodysplastisk syndrom | MDS | Lav til mellem-1 MDS | Ikke-sletning 5qForenede Stater
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Innovation Research & TrainingRekruttering
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OHSU Knight Cancer InstituteNational Cancer Institute (NCI); Oregon Health and Science UniversityRekrutteringOndartet fast neoplasma | Lynch syndrom | Neoplasma i hæmatopoietisk og lymfoid system | Duktalt brystkarcinom in situ | Arveligt neoplastisk syndrom | BRCA1/2-associeret arvelig bryst- og ovariecancersyndromForenede Stater
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Bai Wen-PeiUkendtMenopausalt syndrom | Lipidudtømning | Overdreven fysisk træning, uspecificeret
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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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NRG OncologyNational Cancer Institute (NCI)Aktiv, ikke rekrutterendeGliom | Oligoastrocytom | Anaplastisk astrocytom | Oligodendrogliom | Diffus astrocytom | WHO Grade III Gliom | IDH2-genmutation | IDH1-genmutation | 1p/19q SamsletningForenede Stater
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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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Nobias Therapeutics, Inc.Afsluttet
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Ultragenyx Pharmaceutical IncNewcastle UniversityAfsluttetArvelig Inclusion Body Myopati | GNE myopati | Nonaka sygdom | Quadriceps Sparing Myopati (QSM) | Distal myopati med kantede vakuoler (DMRV)Forenede Stater, Bulgarien, Canada, Frankrig, Det Forenede Kongerige
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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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Duke UniversityNational Institute of Mental Health (NIMH); University of Pittsburgh; Harvard...Afsluttet22q11.2 Deletionssyndrom | Velo-cardio-ansigtssyndromForenede Stater
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NobelpharmaAfsluttetGNE myopati | Nonaka sygdom | Distal myopati med kantede vakuoler (DMRV) | Hereditary Inclusion Body Myopati (hIBM)Japan
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Aevi Genomic Medicine, LLC, a Cerecor companyAfsluttet22q11.2 DeletionssyndromForenede Stater
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University of AarhusUniversity of CopenhagenAfsluttetIleostomi - Stomi | Kort tarm syndrom | Ernæringsmæssig mangel | NatriumdepletionDanmark
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Neuren Pharmaceuticals LimitedAktiv, ikke rekrutterendePhelan-McDermid syndromForenede Stater