학술논문
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'학술논문'
에서 검색결과 268건 | 목록
1~20
Academic Journal
Moreau, Clara A.; Ayrolles, Anael; Ching, Christopher R. K.; Bonicel, Robin; Mathieu, Alexandre; Stordeur, Coline; El Khantour, Clara; Bergeret, Pierre; Traut, Nicolas; Tran, Lydie; Germanaud, David; Alison, Marianne; Elmaleh-Bergès, Monique; Ehrlich, Stefan; Thompson, Paul M.; Bourgeron, Thomas; Delorme, Richard
Nature Mental Health. 3(7):780-788
Academic Journal
Thomas B. Smith; Robert Kopajtich; Leigh A.M. Demain; Alessandro Rea; Huw B. Thomas; Manuel Schiff; Christian Beetz; Shelagh Joss; Gerard S. Conway; Anju Shukla; Mayuri Yeole; Periyasamy Radhakrishnan; Hatem Azzouz; Amel Ben Chehida; Monique Elmaleh-Bergès; Ruth I.C. Glasgow; Kyle Thompson; Monika Oláhová; Langping He; Emma M. Jenkinson; Amir Jahic; Inna A. Belyantseva; Melanie Barzik; Jill E. Urquhart; James O’Sullivan; Simon G. Williams; Sanjeev S. Bhaskar; Samantha Carrera; Alexander J.M. Blakes; Siddharth Banka; Wyatt W. Yue; Jamie M. Ellingford; Henry Houlden; Kevin J. Munro; Thomas B. Friedman; Robert W. Taylor; Holger Prokisch; Raymond T. O’Keefe; William G. Newman
Am J Hum Genet
DDD Study, Smith, T B, Kopajtich, R, Demain, L AM , Rea, A, Thomas, H B, Schiff, M , Beetz, C, Joss, S, Conway, G S, Shukla, A, Yeole, M , Radhakrishnan, P, Azzouz, H, Ben Chehida, A, Elmaleh -Bergès , M , Glasgow, R I C, Thompson, K, Oláhová, M , He, L, Jenkinson, E M , Jahic, A, Belyantseva, I A, Barzik, M , Urquhart, J E, O'Sullivan, J, Williams, S G, Bhaskar, S S, Carrera, S, Blakes, A J M , Banka, S, Yue, W W, Ellingford, J M , Houlden, H, Munro, K J, Friedman, T B, Prokisch, H, O'Keefe, R T & Newman, W G 2025, 'Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype', American Journal of Human Genetics, vol. 112, no. 1, pp. 59-74. https://doi.org/10.1016/j.ajhg.2024.11.007, https://doi.org/10.1016/j.ajhg.2024.11.007
DDD Study, Smith, T B, Kopajtich, R, Demain, L A
Academic Journal
Clara A. Moreau; Anael Ayrolles; Christopher R. K. Ching; Robin Bonicel; Alexandre Mathieu; Coline Stordeur; Pierre Bergeret; Nicolas Traut; Lydie Tran; David Germanaud; Marianne Alison; Monique Elmaleh-Bergès; Stefan Ehrlich; Paul M. Thompson; Thomas Bourgeron; Richard Delorme
medRxiv
Academic Journal
Thomas B. Smith; Robert Kopajtich; Leigh A.M. Demain; Alessandro Rea; Huw B. Thomas; Manuel Schiff; Christian Beetz; Shelagh Joss; Gerard S. Conway; Anju Shukla; Mayuri Yeole; Periyasamy Radhakrishnan; Hatem Azzouz; Amel Ben Chehida; Monique Elmaleh-Bergès; Ruth I.C. Glasgow; Kyle Thompson; Monika Oláhová; Langping He; Emma M. Jenkinson; Amir Jahic; Inna A. Belyantseva; Melanie Barzik; Jill E. Urquhart; James O’ Sullivan; Simon G. Williams; Sanjeev S. Bhaskar; Samantha Carrera; Alexander J.M. Blakes; Siddharth Banka; Wyatt W. Yue; Jamie M. Ellingford; Henry Houlden; Kevin J. Munro; Thomas B. Friedman; Robert W. Taylor; Holger Prokisch; Raymond T. O’Keefe; William G. Newman
medRxiv
Am. J. Hum. Genet. 112, 59-74 (2025)
DDD Study 2024 'Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.' medRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/2024.08.19.24312079
Am. J. Hum. Genet. 112, 59-74 (2025)
DDD Study 2024 'Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.' medRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/2024.08.19.24312079
Academic Journal
Benifla M; Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Serey-Gaut M; Department of Genetics, Necker Hospital, CRMR Surdités Génétiques, Service Médecine Génomique des Maladies Rares, UF Développement et Morphogenèse, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Centre de Recherche en Audiologie, Necker Hospital, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Bois E; Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Jbyeh S; Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Teissier N; Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Elmaleh-Bergès M; Department of Pediatric Radiology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Jonard L; Department of Genetics, Necker Hospital, CRMR Surdités Génétiques, Service Médecine Génomique des Maladies Rares, UF Développement et Morphogenèse, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Pingault V; Department of Genetics, Necker Hospital, CRMR Surdités Génétiques, Service Médecine Génomique des Maladies Rares, UF Développement et Morphogenèse, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Loundon N; Centre de Recherche en Audiologie, Necker Hospital, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Department of Otolaryngology, Necker Hospital, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Belhous K; Department of Pediatric Radiology, Necker Hospital, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Marlin S; Department of Genetics, Necker Hospital, CRMR Surdités Génétiques, Service Médecine Génomique des Maladies Rares, UF Développement et Morphogenèse, AP-HP, Faculty of Medicine, Paris University, F-75015 Paris, France.; Unité INSERM UMR1163, Institut Imagine, Génétique des Maladies Ophtalmologiques Auditives et Mitochondriales Rares, F-75015 Paris, France.; Maudoux A; Department of Otolaryngology, Robert Debré Hospital, AP-HP, Faculty of Medicine, Paris University, F-75019 Paris, France.; Institut Pasteur, Institut de l'Audition, Unit Progressive Sensory Disorders Pathophysiology and Therapy, Université Paris Cité, INSERM A006, F-75012 Paris, France.
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
Book
Réanimation et Soins Intensifs en Néonatologie ISBN: 9782294770197
Academic Journal
Elbaz N; Service d'Imagerie Pédiatrique, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France.; Biran V; Service de Réanimation et Pédiatrie Néonatales, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France.; Ghozland C; Service de Réanimation et Pédiatrie Néonatales, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France.; Devisscher L; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France; Université Paris-Saclay, CEA, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Gonzalez Carpinteiro A; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France; Université Paris-Saclay, CEA, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Bourmaud A; Unité d'épidémiologie Clinique, Hôpital Robert-Debré AP-HP, Inserm CIC 1426, Université Paris-Cité, Paris, France.; Elmaleh-Bergès M; Service d'Imagerie Pédiatrique, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France.; Hertz-Pannier L; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France; Université Paris-Saclay, CEA, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Leprince Y; Université Paris-Saclay, CEA, NeuroSpin, UNIACT, Gif-sur-Yvette, France.; Frérot A; Service de Réanimation et Pédiatrie Néonatales, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France.; Héneau A; Service de Réanimation et Pédiatrie Néonatales, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France.; Dubois J; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France; Université Paris-Saclay, CEA, NeuroSpin, UNIACT, Gif-sur-Yvette, France. Electronic address: jessica.dubois@inserm.fr.; Alison M; Service d'Imagerie Pédiatrique, Hôpital Robert-Debré AP-HP, Université Paris-Cité, Paris, France; Université Paris-Cité, Inserm U1141, NeuroDiderot, Paris, France.
Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Academic Journal
American Journal of Neuroradiology. 42:1722-1726
Academic Journal
Surgical and Radiologic Anatomy. 42:1057-1062
Academic Journal
Matias Wagner; Jonathan Lévy; Sabine Jung-Klawitter; Somayeh Bakhtiari; Fabiola Monteiro; Reza Maroofian; Tatjana Bierhals; Maja Hempel; Monique Elmaleh-Bergès; Joao P. Kitajima; Chong A. Kim; Julia G. Salomao; David J. Amor; Monica S. Cooper; Laurence Perrin; Eva Pipiras; Axel Neu; Mohammad Doosti; Ehsan G. Karimiani; Mehran B. Toosi; Henry Houlden; Sheng Chih Jin; Yue C. Si; Lance H. Rodan; Hanka Venselaar; Michael C. Kruer; Fernando Kok; Georg F. Hoffmann; Tim M. Strom; Saskia B. Wortmann; Anne-Claude Tabet; Thomas Opladen
Genetics in Medicine, 22, 6, pp. 1061-1068
Genet. Med. 22, 1061-1068 (2020)
Genet. Med. 22, 1061-1068 (2020)
Academic Journal
Goodkey K; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Wischmeijer A; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Perrin L; Clinical Genetics Unit, Hôpital Robert-Debré, Paris, France.; Watson AES; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada.; Qureshi L; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada.; Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Neuropsichiatria Dell'età Pediatrica, Bologna, Italy.; Toni F; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neuroradiologia Con Tecniche Ad Elevata Complessità (PNTEC), Bologna, Italy.; Gnazzo M; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Benedicenti F; Clinical Genetics Service and Coordination Center for Rare Diseases, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.; Elmaleh-Bergès M; Service d'Imagerie Pédiatrique, Hôpital Universitaire Robert Debré, Paris, France.; Low KJ; Department of Academic Child Health, Bristol Medical School, Population Health Sciences, University of Bristol, Bristol, UK.; Clinical Genetics Service, St. Michaels Hospital, Bristol, UK.; Voronova A; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Women and Children's Health Research Institute, University of Alberta, 5-083 Edmonton Clinic Health Academy, Edmonton, AB, T6G 1C9, Canada. voronova@ualberta.ca.; Department of Cell Biology, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB, T6G 2H7, Canada. voronova@ualberta.ca.; Faculty of Medicine & Dentistry, Neuroscience and Mental Health Institute, Edmonton, AB, T6G 2E1, Canada. voronova@ualberta.ca.
Publisher: BioMed Central Country of Publication: England NLM ID: 101190723 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7015 (Electronic) Linking ISSN: 17417015 NLM ISO Abbreviation: BMC Med Subsets: MEDLINE
Academic Journal
Brulé S; Assistance Publique - Hopitaux de Paris, Pediatric Neurology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Dozières-Puyravel B; Assistance Publique - Hopitaux de Paris, Pediatric Neurology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Nasser H; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Assistance Publique - Hopitaux de Paris, Neurophysiology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Elmaleh-Bergès M; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Assistance Publique - Hopitaux de Paris, Radiology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Mauvais FX; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Assistance Publique - Hopitaux de Paris, Neurophysiology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Université Paris-Cité, Institut national de la santé et de la recherche médicale NeuroDiderot, Paris, France.; Auvin S; Assistance Publique - Hopitaux de Paris, Pediatric Neurology Department, Reference Center for Rare Epilepsies, member of European Reference Network EpiCARE, Hôpital Universitaire Robert-Debré, Paris, France.; Institut Hospitalo-Universitaire Robert-Debré du Cerveau de l'Enfant, Paris, France.; Université Paris-Cité, Institut national de la santé et de la recherche médicale NeuroDiderot, Paris, France.; Institut Universitaire de France, Paris, France.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
L. Cardoen; M. Schiff; J. Lambron; A. Rega; A.-L. Virlouvet; V. Biran; S. Eleni Dit Trolli; M. Elmaleh-Bergès; M. Alison
Archives de Pédiatrie. 23:1291-1294
Academic Journal
Germanaud, D. ; Lefèvre, J. ; Fischer, C. ; Bintner, M. ; Curie, A. ; des Portes, V. ; Eliez, S. ; Elmaleh-Bergès, M. ; Lamblin, D. ; Passemard, S. ; Operto, G. ; Schaer, M. ; Verloes, A. ; Toro, R. ; Mangin, J.F. ; Hertz-Pannier, L.
In NeuroImage 15 November 2014 102 Part 2:317-331
Academic Journal
Passemard, Sandrine ; Verloes, Alain ; Billette de Villemeur, Thierry ; Boespflug-Tanguy, Odile ; Hernandez, Karen ; Laurent, Marion ; Isidor, Bertrand ; Alberti, Corinne ; Pouvreau, Nathalie ; Drunat, Séverine ; Gérard, Bénédicte ; El Ghouzzi, Vincent ; Gallego, Jorge ; Elmaleh-Bergès, Monique ; Huttner, Wieland B. ; Eliez, Stephan ; Gressens, Pierre ; Schaer, Marie
In Cortex January 2016 74:158-176
Academic Journal
Teissier, N. ; Doehring, I. ; Noel-Petroff, N. ; Elmaleh-Bergès, M. ; Viala, P. ; François, M. ; Faye, A. ; Van Den Abbeele, T. ; Lorrot, M.
In Archives de pédiatrie June 2013 20(6):616-623
Academic Journal
Kerdreux, E.; Fraize, J.; Garzón, P.; Hertz-Pannier, L.; Leprince, Y.; Germanaud, D.; Elmaleh-Berges, M.; Ntorkou, A.; Delorme, R.; Duchesnay, E.; Mangin, J.-F.
In: Human Brain Mapping . (Human Brain Mapping, 1 June 2025, 46(8))
Academic Journal
Fraize J; UNIACT, NeuroSpin, Frederic Joliot Institute, Centre d'études de Saclay, CEA Paris-Saclay, Gif-sur-Yvette, France.; InDEV, NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Leprince Y; UNIACT, NeuroSpin, Frederic Joliot Institute, Centre d'études de Saclay, CEA Paris-Saclay, Gif-sur-Yvette, France.; Elmaleh-Bergès M; Department of Pediatric Radiologic, Robert-Debré Hospital, AP-HP, Centre of Excellence InovAND, Paris, France.; Kerdreux E; UNIACT, NeuroSpin, Frederic Joliot Institute, Centre d'études de Saclay, CEA Paris-Saclay, Gif-sur-Yvette, France.; InDEV, NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Delorme R; Department of Child and Adolescent Psychiatry, Robert-Debré Hospital, AP-HP, Centre of Excellence InovAND, Paris, France.; Hertz-Pannier L; UNIACT, NeuroSpin, Frederic Joliot Institute, Centre d'études de Saclay, CEA Paris-Saclay, Gif-sur-Yvette, France.; InDEV, NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Lefèvre J; Institut de Neurosciences de La Timone, CNRS, Aix-Marseille Université, Marseille, France.; Germanaud D; UNIACT, NeuroSpin, Frederic Joliot Institute, Centre d'études de Saclay, CEA Paris-Saclay, Gif-sur-Yvette, France.; InDEV, NeuroDiderot, Inserm, Université Paris Cité, Paris, France.; Department of Genetics, Robert-Debré Hospital, AP-HP, Centre de Référence Déficiences Intellectuelles de Causes Rares, Centre of Excellence InovAND, Paris, France.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
Academic Journal
M, Elmaleh-Bergès; C, Baumann; N, Noël-Pétroff; A, Sekkal; V, Couloigner; K, Devriendt; M, Wilson; S, Marlin; G, Sebag; V, Pingault
American Journal of Neuroradiology. 34:1257-1263
Academic Journal
Journal of Neuroradiology. 47(2):86-86
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[검색어] Elmaleh-Bergès, M.
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