학술논문


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'학술논문' 에서 검색결과 865건 | 목록 1~20
Academic Journal
Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant
Eur J Hum Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European journal of human genetics
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; ... (2024). Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), pp. 928-937. Springer Nature 10.1038/s41431-024-01610-1
Academic Journal
Cali, ElisaQuirin, TaniaRocca, ClarissaEfthymiou, StephanieRiva, AntonellaMarafi, DanaZaki, Maha S.Suri, MohnishDominguez, RobertoElbendary, Hasnaa M.Alavi, ShahryarAbdel-Hamid, Mohamed S.Morsy, HebaMau-Them, Frederic TranNizon, MathildeTesner, PavelRyba, LukášZafar, FaisalRana, NuzhatSaadi, Nebal W.Firoozfar, ZahraGencpinar, PinarUnay, BulentUstun, CananBruel, Ange-LineCoubes, ChristineStefanich, JenniferSezer, OzlemAgolini, EmanueleNovelli, AntonioVasco, GessicaLettori, DonatellaMilh, MathieuVillard, LaurentZeidler, ShimrietOpperman, HenryStrehlow, VincentIssa, Mahmoud Y.El Khassab, HebatallahChand, PremIbrahim, ShahnazNejad-Rashidi, AliMiryounesi, MohammadLarki, PegahMorrison, JenniferCristian, IngridThiffault, IsabelleBertsch, Nicole L.Noh, Grace J.Pappas, JohnMoran, EllenMarinakis, Nikolaos M.Traeger-Synodinos, JoanneHosseini, SusanAbbaszadegan, Mohammad RezaCaumes, RoselineVissers, Lisenka E.L.M.Neshatdoust, MaedehMontazer, Mostafa ZohourEl Fahime, ElmostafaCanavati, ChristinKamal, LaraKanaan, MoienAskander, OmarVoinova, VictoriaLevchenko, OlgaHaider, ShahzhadHalbach, Sara S.Maia, Elias RayanaMansoor, SalehiVivek, JainTawde, SanjuktaChalla, Viveka Santhosh R.Gowda, Vykuntaraju K.Srinivasan, Varunvenkat M.Victor, Lucas AlvesPinero-Banos, BenitoHague, JenniferEi-Awady, Heba AhmedMaria de Miranda Henriques-Souza, AdeliaCheema, Huma ArshadAnjum, Muhammad NadeemIdkaidak, SaraAlqarajeh, FirasAtawneh, OsamaMor-Shaked, HagarHarel, TamarZifarelli, GiovanniBauer, PeterKok, FernandoKitajima, Joao PauloMonteiro, FabiolaJosahkian, JulianaLesca, GaetanChatron, NicolasVille, DorotheMurphy, DavidNeul, Jeffrey L.Mullegama, Sureni V.Begtrup, AmberHerman, IsabellaMitani, TadahiroPosey, Jennifer E.Tay, Chee GeapJaved, IramCarr, LucindaKanani, FarahBeecroft, FionaHane, LeeAbdelkreem, ElsayedMacek, MilanBispo, LucianaElmaksoud, Marwa AbdHashemi-Gorji, FarzadPehlivan, DavutAmor, David J.Jamra, Rami AbouChung, Wendy K.Ghayoor, Eshan KarimianiCampeau, PhilippeAlkuraya, Fowzan S.Pagnamenta, Alistair T.Gleeson, JosephLupski, James R.Striano, PasqualeMoreno-De-Luca, AndresLafontaine, Denis L.J.Houlden, HenryMaroofian, Reza
In Genetics in Medicine September 2024
Editorial & Opinion
Chatzimatthaiou S; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Bonifazi F; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Gimbert AC; Rare Anemia Disorders Research Laboratory, Group of Translational Research in Cancer and Blood Disorders in Children Vall d'Hebron Institut de Recerca Barcelona Spain.; Colombatti R; Department of Women's and Children's Health University of Padua Padua Italy.; Cremonesi F; EPIONE Research Group INRIA de l'Université de la Côte d'Azur Valbonne France.; Glenthøj A; Danish Red Blood Cell Center, Department of Hematology Copenhagen University Hospital - Rigshospitalet Copenhagen Denmark.; Mezzalira E; Department of Women's and Children's Health University of Padua Padua Italy.; Stephanou C; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Traeger-Synodinos J; National and Kapodistrian University of Athens Athens Greece.; Antic D; Clinic for Hematology, University Clinical Center of Serbia, Faculty of Medicine University of Belgrade Belgrade Serbia.; Durmaz B; Department of Medical Genetics Ege University, Faculty of Medicine Bornova Izmir Turkey.; Gavriilaki E; Aristotle University of Thessaloniki Thessaloniki Greece.; Inusa B; Faculty of Life Sciences and Medicine King's College London London United Kingdom.; Medical and Science, Rare Disease, Novo Nordisk, Novo Alle 1 Bagsvaerd Denmark.; Landi A; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Pellegrini M; Département d'Hématologie et Immunologie, Hôpital St. Louis, Assistance Publique Hôpitaux de Paris Hôpital Saint-Louis Paris France.; Basile F; Fondazione per la ricerca farmacologica Gianni Benzi onlus Bari Italy.; Muth S; StoryRelator Ltd. London United Kingdom.; Cario H; Department of Pediatrics and Adolescent Medicine and Center for Rare Hematopoietic Disorders and Immunodeficiencies (ZSHI Ulm) Ulm University Medical Center Ulm Germany.; Katsantoni E; Basic Research Center, Biomedical Research Foundation Academy of Athens Athens Greece.; Ruhluel D; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Lederer CW; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.; Mañú-Pereira MDM; Rare Anemia Disorders Research Laboratory, Group of Translational Research in Cancer and Blood Disorders in Children Vall d'Hebron Institut de Recerca Barcelona Spain.; Kountouris P; Molecular Genetics Thalassaemia Department The Cyprus Institute of Neurology & Genetics Nicosia Cyprus.
Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE
Academic Journal
Stephanou C; The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Chatzimatthaiou S; The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; Kountouris P; The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.; Traeger-Synodinos J; National and Kapodistrian University of Athens, Athens, Greece.
Publisher: American Society of Hematology Country of Publication: United States NLM ID: 101698425 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2473-9537 (Electronic) Linking ISSN: 24739529 NLM ISO Abbreviation: Blood Adv Subsets: MEDLINE
Academic Journal
Mavrogeni SI; Onassis Cardiac Surgery Center, Athens, Greece. soma13@otenet.gr.; University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair in Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece. soma13@otenet.gr.; Aghia Sophia Children's Hospital, Athens, Greece. soma13@otenet.gr.; Kekou K; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Markousis-Mavrogenis G; University Research Institute of Maternal and Child Health & Precision Medicine, and UNESCO Chair in Adolescent Health Care, National and Kapodistrian University of Athens, Athens, Greece.; Aghia Sophia Children's Hospital, Athens, Greece.; National and Kapodistrian University of Athens, Athens, Greece.; Bacopoulou F; Aghia Sophia Children's Hospital, Athens, Greece.; Exercise Physiology and Sports Medicine Clinic, Center for Adolescent Medicine and UNESCO Chair in Adolescent Health Care, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Akrioti M; Iaso Children's Hospital, Athens, Greece.; Svingou M; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Traeger-Synodinos J; Aghia Sophia Children's Hospital, Athens, Greece.; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece.; Dagouloudi A; Private Paediatric Practice, Volos, Greece.; Lafioniatis S; Department of Thalassaemias, 'Achillopouleio' Volos General Hospital, Volos, Greece.; Papavasiliou A; Iaso Children's Hospital, Athens, Greece.
Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE
Academic Journal
Dana E. Layo-CarrisEmily E. LubinAnnabel K. SangreeKelly J. ClarkEmily L. DurhamElizabeth M. GonzalezSarina SmithRajesh AngireddyXiao Min WangErin WeissAnnick ToutainRoberto Mendoza-LondonoLucie DupuisNadirah DamsehDanita VelascoIrene ValenzuelaMarta Codina-SolàCatherine ZiatsJaclyn HaveKatie ClarksonDora SteelManju KurianKaty BarwickDiana CarrascoAditi I. DagliM. J. M. NowaczykMiroslava HančárováŠárka BendováDarina PrchalovaZdeněk SedláčekAlica BaxováCatherine Bearce NowakJessica DouglasWendy K. ChungNicola LongoKonrad PlatzerChiara KlöcknerLuisa AverdunkDagmar WieczorekIlona KreyChristiane ZweierAndre ReisTugce BalciMarleen SimonHester Y. KroesAntje WiesenerGeorgia VasileiouNikolaos M. MarinakisDanai VeltraChristalena SofocleousKonstantina KosmaJoanne Traeger SynodinosKonstantinos A. VoudrisMarie-Laure VuillaumePaul GueguenNicolas DeriveEstelle ColinClarisse BattaultBillie AuMartin DelatyckiMathew WallisLyndon GallacherFatma MajdoubNoor SmalSarah WeckhuysenAn-Sofie SchoonjansR. Frank KooyMarije MeuwissenBenjamin T. CocanougherKathryn TaylorCarolyn E. PizoliMarie T. McDonaldPhilip JamesElizabeth R. RoederRebecca LittlejohnNicholas A. BorjaWilla ThorsonKristine KingRadka StoevaManon SuerinkEsther NibbelingStephanie BaskinGwenaël L. E. GuyaderJulie KaplanCandace MussDeanna Alexis CarereElizabeth J. K. BhojLaura M. Bryant
Eur J Hum Genet
Layo-Carris, Dana E; Lubin, Emily E; Sangree, Annabel K; Clark, Kelly J; Durham, Emily L; Gonzalez, Elizabeth M; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; ... (2024). Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. European journal of human genetics, 32(8), p. 1032. Springer Nature 10.1038/s41431-024-01659-y
Academic Journal
Kakourou G; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Vrettou C; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Mamas T; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's, Medical School, Children's Hospital, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Chapman KA; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Ullah F; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Yahiku ZA; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Khan S; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Kodiparthi SV; AIQure LLC, El Paso, TX, USA.; Kellaris G; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; White HG; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Powell AT; Department of Neuroscience, University of Arizona, Tucson, AZ, USA.; Correia SP; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Department of Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.; Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece; Laboratory of Genetics, Faculty of Medicine, Democritus University of Thrace, Alexandroupolis, Greece.; Fryssira H; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Tsoutsou E; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece.; Accogli A; Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University, Montreal, QC, Canada.; Sciruicchio V; Children Epilepsy and EEG Center, Bari, Italy.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100 L'Aquila, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy; IRCCS Istituto Giannina Gaslini, full member of ERN-EpiCARE, Genova, Italy.; Muss C; Nemours Children's Hospital, Wilmington, DE, USA.; Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Heron D; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris, France.; Berger SI; Children's National Rare Disease Institute and Center for Genetic Medicine Research, Washington, DC, USA.; Pond KW; Department of Cellular and Molecular Medicine, University of Arizona College of Medicine, Tucson, AZ, USA.; Sirimulla S; AIQure LLC, El Paso, TX, USA; Expert Systems Inc., San Diego, CA, USA.; Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. Electronic address: eridavis@luriechildrens.org.; Bhattacharya MRC; Department of Neuroscience, University of Arizona, Tucson, AZ, USA. Electronic address: marthab1@arizona.edu.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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[검색어] Traeger-Synodinos, J.
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