학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 533건 | 목록 1~10
Academic Journal
Bainbridge, Matthew NMazumder, AloranOgasawara, DaisukeJamra, Rami AbouBernard, GenevièveBertini, EnricoBurglen, LydieCope, HeidiCrawford, AliDerksen, AlexaDure, LeonGantz, EmilyKoch-Hogrebe, MargareteHurst, Anna CEMahida, SonalMarshall, PaigeMicalizzi, AlessiaNovelli, AntonioPeng, HongfanMedicine, Rady Children's Institute for GenomicRodriguez, DianaRobbins, Shira LRutledge, S LaneScalise, RobertaSchließke, SophiaShashi, VandanaSrivastava, SiddharthThiffault, IsabellaTopol, SarahAcosta, Maria TAdam, MargaretAdams, David RAlvey, JustinAmendola, LauraAndrews, AshleyAshley, Euan AAzamian, Mahshid SBacino, Carlos ABademci, GuneyBalasubramanyam, AshokBaldridge, DustinBale, JimBamshad, MichaelBarbouth, DeborahBayrak-Toydemir, PinarBeck, AnitaBeggs, Alan HBehrens, EdwardBejerano, GillBennet, JimmyBerg-Rood, BeverlyBernstein, Jonathan ABerry, Gerard TBican, AnnaBivona, StephanieBlue, ElizabethBohnsack, JohnBonner, DevonBotto, LorenzoBoyd, BrennaBriere, Lauren CBrokamp, EllyBrown, GabrielleBurke, Elizabeth ABurrage, Lindsay CButte, Manish JByers, PeterByrd, William ECarey, JohnCarrasquillo, OlveenCassini, ThomasChang, Ta Chen PeterChanprasert, SirisakChao, Hsiao-TuanClark, Gary DCoakley, Terra RCobban, Laurel ACogan, Joy DCoggins, MatthewCole, F SessionsColley, Heather ACooper, Cynthia MCraigen, William JCrouse, Andrew BCunningham, MichaelD’Souza, PrecillaDai, HongzhengDasari, SurendraDavis, JoieDayal, Jyoti GDeardorff, MatthewDell’Angelica, Esteban CDipple, KatrinaDoherty, DanielDorrani, NaghmehDoss, Argenia LDouine, Emilie DDuncan, LauraEarl, Dawn
Brain. 145(10)
Academic Journal
Engel, CamilleValence, StéphanieDelplancq, GeoffroyMaroofian, RezaAccogli, AndreaAgolini, EmanueleAlkuraya, Fowzan S.Baglioni, ValentinaBagnasco, IreneBecmeur-Lefebvre, MathildeBertini, EnricoBorggraefe, IngoBrischoux-Boucher, EliseBruel, Ange-LineBrusco, AlfredoBubshait, Dalal K.Cabrol, ChristelleCilio, Maria RobertaCornet, Marie-CoralieCoubes, ChristineDanhaive, OlivierDelague, ValérieDenommé-Pichon, Anne-SophieDi Giacomo, Marilena CarmelaDoco-Fenzy, MartineEngels, HartmutCremer, KirstenGérard, MarionGleeson, Joseph G.Heron, DelphineGoffeney, JoannaGuimier, AnneHarms, Frederike L.Houlden, HenryIacomino, MicheleKaiyrzhanov, RauanKamien, BenjaminKarimiani, Ehsan GhayoorKraus, DrorKuentz, PaulKutsche, KerstinLederer, DamienMassingham, LaurenMignot, CyrilMorris-Rosendahl, DéborahNagarajan, LakshmiOdent, SylvieOrmières, ClothildePartlow, Jennifer NeilPasquier, LaurentPenney, LynettePhilippe, ChristophePiccolo, GianlucaPoulton, CathrynPutoux, AudreyRio, MarlèneRougeot, ChristelleSalpietro, VincenzoScheffer, IngridSchneider, AmySrivastava, SiddharthStraussberg, RachelStriano, PasqualeValente, Enza MariaVenot, PerrineVillard, LaurentVitobello, AntonioWagner, JohannaWagner, MatiasZaki, Maha S.Zara, FederizoLesca, GaetanYassaee, Vahid RezaMiryounesi, MohammadHashemi-Gorji, FarzadBeiraghi, MehranAshrafzadeh, FarahGalehdari, HamidWalsh, ChristopherNovelli, AntonioTacke, MoritzSadykova, DinaraMaidyrov, YerdanKoneev, KairgaliShashkin, ChingizCapra, ValeriaZamani, MinaVan Maldergem, LionelBurglen, LydiePiard, Juliette
European Journal of Human Genetics. 31(9):1023-1031
Academic Journal
Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Sultan T; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Leeuwen L; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Zifarelli G; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; AP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2, Paris, France.; Roze E; Assistance Publique-Hôpitaux de Paris CHU Pitié-Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau, Paris, France.; Travaglini L; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy.; Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Bambino Gesù Children's Hospital of Rome, Rome, Italy.; Ojea Ponce N; Department of Statistics, Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tamim A; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Ababneh F; Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; Morrow MM; GeneDx, Gaithersburg, Maryland, USA.; Curry C; Department of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA.; Tam A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.; Ruedy J; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Bhambhani V; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Veith R; Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA.; Strømme P; Division of Pediatrics and Adolescent Medicine, Oslo, University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.; Burglen L; Centre de Référence Maladies Rares 'Malformations et Maladies Congénitales du Cervelet,' Hôpital Trousseau, APHP, Sorbonne University, Paris, France.; Département de Génétique, APHP, Sorbonne University, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, Paris, France.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Academic Journal
Sorrentino U; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. ugo.sorrentino@unipd.it.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany. ugo.sorrentino@unipd.it.; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padua, Italy. ugo.sorrentino@unipd.it.; Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Doummar D; Sorbonne Université, Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau AP-HP.SU, HU I2D2, Paris, France.; Ravelli C; Sorbonne Université, Service de Neuropédiatrie-Pathologie du Développement, Centre de Référence Neurogénétique, Hôpital Trousseau AP-HP.SU, HU I2D2, Paris, France.; Serranova T; Department of Neurology and Centre of Clinical Neuroscience, General University Hospital and First Faculty of Medicine, Charles University, Kateřinská 30, 12 800, Prague, Czech Republic.; Indelicato E; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.; Winkelmann J; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; DZPG, Deutsches Zentrum Für Psychische Gesundheit, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Burglen L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP. Sorbonne Université, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, Paris, France.; Jech R; Department of Neurology and Centre of Clinical Neuroscience, General University Hospital and First Faculty of Medicine, Charles University, Kateřinská 30, 12 800, Prague, Czech Republic.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
Academic Journal
Vincenzo SalpietroChristine L. DixonHui GuoOscar D. BelloJana VandrovcovaStephanie EfthymiouReza MaroofianGali HeimerLydie BurglenStephanie ValenceErin TortiMoritz HackeJulia RankinHuma TariqEstelle ColinVincent ProcaccioPasquale StrianoKshitij MankadAndreas LiebSharon ChenLaura PisaniConceicao BettencourtRoope MännikköAndreea ManoleAlfredo BruscoEnrico GrossoGiovanni Battista FerreroJudith Armstrong-MoronSophie GuedenOmer Bar-YosefMichal TzadokKristin G. MonaghanTeresa Santiago-SimRichard E. PersonMegan T. ChoRebecca WillaertYongjin YooJong-Hee ChaeYingting QuanHuidan WuTianyun WangRaphael A. BernierKun XiaAlyssa BlessonMahim JainMohammad M. MotazackerBregje JaegerAmy L. SchneiderKatja BoysenAlison M. MuirCandace T. MyersRalitza H. GavrilovaLauren GundersonLaura Schultz-RogersEric W. KleeDavid DymentMatthew OsmondMara ParelladaCloe LlorenteJavier Gonzalez-PeñasAngel CarracedoArie Van HaeringenClaudia RuivenkampCaroline NavaDelphine HeronRosaria NardelloMichele IacominoCarlo MinettiAldo SkabarAntonella FabrettoSYNAPS Study GroupMiquel Raspall-ChaureMichael ChezAnne TsaiEmily FassiMarwan ShinawiJohn N. ConstantinoRita De ZorziSara FortunaFernando KokBoris KerenDominique BonneauMurim ChoiBruria BenzeevFederico ZaraHeather C. MeffordIngrid E. SchefferJill Clayton-SmithAlfons MacayaJames E. RothmanEvan E. EichlerDimitri M. KullmannHenry Houlden
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
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[검색어] Burglen, L.
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