학술논문

EBSCO Discovery Service
발행년
-
(예 : 2010-2015)
전자자료 공정이용 안내

우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.

공정이용 지침
  • 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
  • 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
  • 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
  • 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
  • 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
  • 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
  • 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
  • 상업적·영리적 목적으로 자료를 전송·복제·활용
  • ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
  • EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
  • 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
  • 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
  • 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문' 에서 검색결과 144건 | 목록 1~20
Academic Journal
Kraoua L; Department of Congenital and Hereditary Diseases, harles Nicolle Hospital, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Ben Younes T; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; El Asmi M; Laboratory of Biochemistry, LR99ES11, Rabta Hospital, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Zioudi A; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Klaa H; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Miladi Z; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Benrhouma H; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Nagi S; Department of Neuroradiology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Alglave S; Department of Genetics, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France.; Bruneel A; Department of Biochemistry, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France; INSERM UMR1193, Faculté de Pharmacie, Université Paris-Saclay, 91400 Orsay, France.; Lebredonchel E; Department of Biochemistry, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France.; Dupré T; Department of Biochemistry, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France; INSERM U1149, University of Paris, Paris, France.; Vuillaumier Barrot S; Department of Genetics, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France; Department of Biochemistry, Bichat Hospital, Assistance Publique-Hôpitaux de Paris, France; INSERM U1149, University of Paris, Paris, France.; Kraoua I; Department of Pediatric Neurology, LR18SP04, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia. Electronic address: ichraf.kraoua@fmt.utm.tn.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Kerkeni N; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.; Kharrat M; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Kraoua L; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.; Achour A; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.; Maazoul F; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.; Mrad R; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.; Trabelsi M; Human Genetics Laboratory, LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Genetics Department, Charles Nicolle Hospital, Tunis, Tunisia.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101701004 Publication Model: Print Cited Medium: Internet ISSN: 2472-1727 (Electronic) NLM ISO Abbreviation: Birth Defects Res Subsets: MEDLINE
Academic Journal
Younsi ME; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.; Achour A; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.; Service des Maladies Congénitales Et Héréditaires, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; Kraoua L; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.; Service des Maladies Congénitales Et Héréditaires, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; Nesrine M; Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, 1002, Tunis, Tunisia.; Sayari T; Service de Néphrologie Pédiatrique, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; Abderrahim E; Service de Médecine Interne Et de Néphrologie Adulte, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; Laabidi J; Service Néphrologie, L'Hôpital Militaire Principal d'Instruction de Tunis, MontFleury, 1008, Tunis, Tunisia.; Zouaghi MK; Service de Néphrologie, Dialyse Et Transplantation Rénale, Hôpital La Rabta 1007, Tunis, Tunisia.; Kharrat M; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.; Gargah T; Service de Néphrologie Pédiatrique, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; Trabelsi M; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia.; Service des Maladies Congénitales Et Héréditaires, Hôpital Charles Nicolle, 1006, Tunis, Tunisia.; M'rad R; Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, Université de Tunis El Manar, LR99ES101007, Tunis, Tunisia. ridha.mrad@rns.tn.; Service des Maladies Congénitales Et Héréditaires, Hôpital Charles Nicolle, 1006, Tunis, Tunisia. ridha.mrad@rns.tn.
Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE
Academic Journal
Gouiza I; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS (Unité mixte de recherche Centre national de la recherche scientifique) 6015 INSERM (Institut national de la santé et de la recherche médicale) U1083, SFR ICAT, University of Angers, Angers, France.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; Tunis El Manar University, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis, Tunisia.; Hechmi M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; Tunis El Manar University, Tunis, Tunisia.; Zioudi A; Tunis El Manar University, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis, Tunisia.; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.; Dallali H; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; Tunis El Manar University, Tunis, Tunisia.; Kheriji N; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; Tunis El Manar University, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis, Tunisia.; Charif M; Genetics and Immuno-Cell Therapy Team, Mohammed First University, Oujda, Morocco.; Le Mao M; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS (Unité mixte de recherche Centre national de la recherche scientifique) 6015 INSERM (Institut national de la santé et de la recherche médicale) U1083, SFR ICAT, University of Angers, Angers, France.; Galai S; Faculty of Medicine of Tunis, Tunis, Tunisia.; Department of Clinical Biology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.; Kraoua L; Tunis El Manar University, Tunis, Tunisia.; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia.; Ben Youssef-Turki I; Tunis El Manar University, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis, Tunisia.; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.; Kraoua I; Tunis El Manar University, Tunis, Tunisia.; Faculty of Medicine of Tunis, Tunis, Tunisia.; Research Laboratory LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.; Lenaers G; University of Angers, MitoLab Team, Unité MitoVasc, UMR CNRS (Unité mixte de recherche Centre national de la recherche scientifique) 6015 INSERM (Institut national de la santé et de la recherche médicale) U1083, SFR ICAT, University of Angers, Angers, France.; Department of Neurology, CHU d'Angers, Angers, France.; Kefi R; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis, Tunisia.; Tunis El Manar University, Tunis, Tunisia.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Lorena, TravagliniFrancesco, BrancatiJennifer, SilhavyMiriam, IannicelliElizabeth, NickersonNadia, ElkhartoufiEric, ScottEmily, SpencerStacey, GabrielSophie, ThomasBruria, Ben ZeevEnrico, BertiniEugen, BoltshauserMalika, ChaouchMaria, Roberta CilioMirjam, M. de JongHulya, KayseriliGonul, OgurAndrea, PorettiSabrina, SignoriniGraziella, UzielMaha, S. ZakiAli Pacha LZankl ALeventer RGrattan Smith PJanecke AKoch JFreilinger MD'Hooghe MSznajer YVilain CVan Coster RDemerleir LDias KMoco CMoreira AAe Kim CMaegawa GDakovic ILoncarevic DMejaski Bosnjak VPetkovic DAbdel Salam GMAbdel Aleem AMarti IPinard JMQuijano Roy SSigaudy Sde Lonlay PRomano SVerloes ATouraine RKoenig MDollfus HFlori EFradin MLagier Tourenne CMesser JCollignon PPenzien JMBussmann CMerkenschlager APhilippi HKurlemann GGrundmann KDacou Voutetakis CKitsiou Tzeli SPons RJerney JHalldorsson SJohannsdottir JLudvigsson PPhadke SRGirisha KMDoshi HUdani VKaul MStuart BMagee ASpiegel RShalev SMandel HLev DMichelson MIdit MBen Zeev BGershoni Baruch RFiccadenti AFischetto RGentile MDella Monica MPezzani MGraziano CSeri MBenedicenti FStanzial FBorgatti RRomaniello RAccorsi PBattaglia SFazzi EGiordano LPinelli LBoccone LBarone RSorge GBriatore EBigoni SFerlini ADonati MABiancheri RCaridi GDivizia MTFaravelli FGhiggeri GMirabelli MPessagno ARossi AUliana VAmorini MBriguglio MBriuglia SSalpietro CDTortorella GAdami ABonati MTCastorina PD'Arrigo SLalatta FMarra GMoroni IPantaleoni CRiva DScelsa BSpaccini LDel Giudice ELudwig KPermunian ASuppiej AMacaluso CPichiecchio ABattini RDi Giacomo MPriolo MTimpani PPagani GDi Sabato MLEmma FLeuzzi VMancini FMajore SMicalizzi AParisi PRomani MStringini GZanni GUlgheri LPollazzon, MRENIERI, ALESSANDRABelligni EGrosso EPieri ISilengo MDevescovi RGreco DRomano CCazzagon MSimonati AAl Tawari AABastaki LMégarbané ASabolic Avramovska VSaid EStromme PKoul RRajab AAzam MBarbot CSalih MATabarki BJocic Jakubi BMartorell Sampol LRodriguez BPascual Castroviejo IGener BPuschmann AStarck LCapone ALemke JFluss JNiedrist DHennekam RCWolf NGouider Khouja NKraoua ICeylaner STeber SAkgul MAnlar BComu SKayserili HYüksel AAkcakus MCaglayan AOAldemir OAl Gazali LSztriha LNicholl DWoods CGBennett CHurst JSheridan EBarnicoat AHemingway CLees MWakeling EBlair EBernes SSanchez HClark AEDeMarco EDonahue CSherr EHahn JSanger TDGallager TEDaugherty CKrishnamoorthy KSSarco DWalsh CAMcKanna TMilisa JChung WKDe Vivo DCRaynes HSchubert RSeward ABrooks DGGoldstein ACaldwell JFinsecke EMaria BLHolden KCruse RPKaraca ESwoboda KJViskochil DDobyns WBColin, JohnsonTania, Attié BitachJoseph, G. GleesonEnza, Maria Valente
European Journal of Human Genetics
International JSRD Study Group 2013, 'Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders', European Journal of Human Genetics, vol. 21, no. 10, pp. 1074-1078. https://doi.org/10.1038/ejhg.2012.305
European Journal of Human Genetics, Vol. 21, No 10 (2013) pp. 1074-8
Eur J Hum Genet
Academic Journal
Essaddam L; Department of Pediatrics-PUC, BéchirHamza Children's Hospital, Faculty of Medicine of Tunis and University of Tunis El Manar, Tunis, Tunisia.; Zitouni O; Department of Pediatrics-PUC, BéchirHamza Children's Hospital, Faculty of Medicine of Tunis and University of Tunis El Manar, Tunis, Tunisia.; Kraoua L; Department of genetics, H.Charles Nicolle, Tunis, Tunisia.; Trabelsi M; Department of genetics, H.Charles Nicolle, Tunis, Tunisia.; Sassi H; Department of genetics, H.Charles Nicolle, Tunis, Tunisia.; Kmiha S; Department of Pediatrics, H.Hédi Chaker, Sfax, Tunisia.; Charfi F; Department of Pediatrics, H.Hédi Chaker, Sfax, Tunisia.; El Guiche D; Department of Endocrinology, B. Institut de nutrition, Tunis, Tunisia.; Kebaïli R; Department of Pediatrics, H.F.Hached, Sousse, Tunisia.; Jaballah N; Department of Pediatrics, H.F.Hached, Sousse, Tunisia.; Rjeb M; Department of Pediatrics, H.Sahloul, Sousse, Tunisia.; Zouari N; Department of Pediatrics, H.Sahloul, Sousse, Tunisia.; El Aribi Y; Department of genetics, H.M.Slim, La Marsa, Tunisia.; Hizem S; Department of genetics, H.M.Slim, La Marsa, Tunisia.; Wannes S; Department of Pediatrics, Mahdia, Tunisia.; Fkih Romdhane I; Department of Pediatrics, Mahdia, Tunisia.; Sfar MT; Department of Pediatrics, Mahdia, Tunisia.; Ben Hamouda H; Department of Neonatology, Mahdia, Tunisia.; Hadj Salem R; Department of Pediatrics, Monastir, Tunisia.; Khlayfia Z; Department of Pediatrics, H.M.Slim, La Marsa, Tunisia.; Khmiss T; Department of Neonatology, Monastir, Tunisia.; Monastiri K; Department of Neonatology, Monastir, Tunisia.; Siala N; Department of Pediatrics, H.M.Slim, La Marsa, Tunisia.; Chouchane S; Department of Pediatrics, Monastir, Tunisia.; Souaa H; Department of Neonatology, Mahdia, Tunisia.; Khochtali I; Department of Endocrinology, Monastir, Tunisia.; Mahjoub B; Department of Pediatrics, Mahdia, Tunisia.; Sfar H; Department of endocrinology, Mahdia, Tunisia.; Ben Jemâa L; Department of genetics, H.M.Slim, La Marsa, Tunisia.; Abroug S; Department of Pediatrics, H.Sahloul, Sousse, Tunisia.; Boughamoura L; Department of Pediatrics, H.F.Hached, Sousse, Tunisia.; Kamoun I; Department of Endocrinology, B. Institut de nutrition, Tunis, Tunisia.; Kamoun T; Department of Pediatrics, H.Hédi Chaker, Sfax, Tunisia.; Mrad R; Department of genetics, H.Charles Nicolle, Tunis, Tunisia.; Ben Becher S; Department of Pediatrics-PUC, BéchirHamza Children's Hospital, Faculty of Medicine of Tunis and University of Tunis El Manar, Tunis, Tunisia.
Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE
Academic Journal
Kraoua I; LR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Jamoussi M; LR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Drissi C; Department of Neuroradiology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Kraoua L; Department of Congenital and Hereditary Diseases, Faculty of Medicine of Tunis, Charles Nicolle Hospital, University of Tunis El Manar, Tunis, Tunisia.; Drunat S; Génétique Moléculaire, DMU BioGeM, APHP, Hôpital Robert Debré, Paris, France.; INSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.; Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Ben Younes T; LR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Nagi S; Department of Neuroradiology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Abdelhak S; LR11IPT05, Laboratory of Biomedical Genomics and Oncogenetics, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Boespflug Tanguy O; INSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.; Service de Neuropédiatrie, Centre de Reference LEUKOFRANCE, APHP, Hôpital Robert Debré, Paris, France.; Youssef-Turki IB; LR18SP04, Department of Child and Adolescent Neurology, Faculty of Medicine of Tunis, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, Tunisia.; Trabelsi M; Department of Congenital and Hereditary Diseases, Faculty of Medicine of Tunis, Charles Nicolle Hospital, University of Tunis El Manar, Tunis, Tunisia.; Dorboz I; INSERM UMR1141, Hôpital Robert Debré, Université Paris Cité, Paris, France.; Service de Neuropédiatrie, Centre de Reference LEUKOFRANCE, APHP, Hôpital Robert Debré, Paris, France.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE