학술논문
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'학술논문'
에서 검색결과 17건 | 목록
1~20
Academic Journal
Dekker, Jordy ; Schot, Rachel ; Aldinger, Kimberly A. ; Everman, David B. ; Washington, Camerun ; Jones, Julie R. ; Sullivan, Jennifer A. ; Spillmann, Rebecca C. ; Shashi, Vandana ; Vitobello, Antonio ; Denommé-Pichon, Anne-Sophie ; Mosca-Boidron, Anne-Laure ; Perrin, Laurence ; Auvin, Stéphane ; Zaki, Maha S. ; Gleeson, Joseph G. ; Meave, Naomi ; Wallace, Cassidy ; Nambot, Sophie ; Delanne, Julian ; Ruggiero, Sarah M. ; Helbig, Ingo ; Fitzgerald, Mark P. ; Leventer, Richard J. ; Grange, Dorothy K. ; Argilli, Emanuela ; Sherr, Elliott H. ; Prakash, Supraja ; Neilson, Derek E. ; Nicita, Francesco ; Sferra, Antonella ; Bertini, Enrico S. ; Aiello, Chiara ; Brockmann, Knut ; Kuranov, Alexander B. ; Kaulfuss, Silke ; Basit, Sulman ; Alluqmani, Majed ; Almatrafi, Ahmad ; Friedman, Jan M. ; Guimond, Colleen ; Mohammed, Faruq ; Sharma, Pooja ; Goel, Divya ; Wirth, Thomas ; Anheim, Mathieu ; Bahena, Paulina ; Koparir, Asuman ; Kolokotronis, Konstantinos ; Vona, Barbara ; Haaf, Thomas ; Kunstmann, Erdmute ; Maroofian, Reza ; Sczakiel, Henrike L. ; Boschann, Felix ; Misra-Isrie, Mala ; Louie, Raymond J. ; Stolerman, Elliot S. ; Sanchez-Lara, Pedro A. ; Mergler, Sandra ; Oegema, Renske ; Zarate, Yuri A. ; Kariminejad, Ariana ; Tajsharghi, Homa ; Zeidler, Shimriet ; Kievit, Anneke J.A. ; Bouman, Arjan ; Cappuccio, Gerarda ; Brunetti-Pierri, Nicola ; Stuurman, Kyra E. ; Swols, Dayna Morel ; Tekin, Mustafa ; Upadia, Jariya ; Martin, Donna M. ; Craven, Daniel ; Hiatt, Susan M. ; van de Pol, Laura A. ; D'Arco, Felice ; Margot, Henri ; Wilke, Martina ; Yousefi, Soheil ; Barakat, Tahsin Stefan ; van Veghel-Plandsoen, Monique M. ; Aronica, Eleonora ; Anink, Jasper ; Rogers, Stephen L. ; Slep, Kevin C. ; Doherty, Dan ; Dobyns, William B. ; Mancini, Grazia M.S.
In The American Journal of Human Genetics 2 October 2025 112(10):2363-2380
Academic Journal
van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen ; Lauffer, Peter ; McConkey, Haley ; Caro, Pilar ; Relator, Raissa ; Levy, Michael A. ; Bhai, Pratibha ; Mignot, Cyril ; Keren, Boris ; Briuglia, Silvana ; Sobering, Andrew K. ; Li, Dong ; Vissers, Lisenka E.L.M. ; Dingemans, Alexander J.M. ; Valenzuela, Irene ; Verberne, Eline A. ; Misra-Isrie, Mala ; Zwijnenburg, Petra J.G. ; Waisfisz, Quinten ; Alders, Mariëlle ; Sailer, Sebastian ; Schaaf, Christian P. ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Genetics in Medicine March 2024 26(3)
Academic Journal
Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica ; Haghshenas, Sadegheh ; Relator, Raissa ; Lauffer, Peter ; Vos, Niels ; Levy, Michael A. ; Brunetti-Pierri, Nicola ; Terrone, Gaetano ; Mignot, Cyril ; Keren, Boris ; de Villemeur, Thierry B. ; Volker-Touw, Catharina M.L. ; Verbeek, Nienke ; van der Smagt, Jasper J. ; Oegema, Renske ; Brusco, Alfredo ; Ferrero, Giovanni B. ; Misra-Isrie, Mala ; Hochstenbach, Ron ; Alders, Mariëlle ; Mannens, Marcel M.A.M. ; Sadikovic, Bekim ; van Haelst, Mieke M. ; Henneman, Peter
In Genetics in Medicine August 2023 25(8)
Academic Journal
Mio Aerden; Anne-Sophie Denommé-Pichon; Dominique Bonneau; Ange-Line Bruel; Julian Delanne; Bénédicte Gérard; Benoît Mazel; Christophe Philippe; Lucile Pinson; Clément Prouteau; Audrey Putoux; Frédéric Tran Mau-Them; Éléonore Viora-Dupont; Antonio Vitobello; Alban Ziegler; Amélie Piton; Bertrand Isidor; Christine Francannet; Pierre-Yves Maillard; Sophie Julia; Anais Philippe; Elise Schaefer; Saskia Koene; Claudia Ruivenkamp; Mariette Hoffer; Eric Legius; Miel Theunis; Boris Keren; Julien Buratti; Perrine Charles; Thomas Courtin; Mala Misra-Isrie; Mieke van Haelst; Quinten Waisfisz; Dagmar Wieczorek; Ariane Schmetz; Theresia Herget; Fanny Kortüm; Jasmin Lisfeld; François-Guillaume Debray; Nuria C. Bramswig; Isis Atallah; Heidi Fodstad; Guillaume Jouret; Berta Almoguera; Saoud Tahsin-Swafiri; Fernando Santos-Simarro; Maria Palomares-Bralo; Vanesa López-González; Maria Kibaek; Pernille M. Tørring; Alessandra Renieri; Lucia Pia Bruno; Katrin Õunap; Monica Wojcik; Tzung-Chien Hsieh; Peter Krawitz; Hilde Van Esch
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Aerden,M , Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M , Legius, E, Theunis, M , Keren, B, Buratti, J, Charles, P, Courtin, T, Misra -Isrie , M , van Haelst, M , Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M , López-González, V, Kibaek, M , Tørring, P M , Renieri, A, Bruno, L P, Õunap, K, Wojcik, M , Hsieh, T-C, Krawitz, P & van Esch, H 2023, 'The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468. https://doi.org/10.1038/s41431-023-01307-x
Consejería de Sanidad de la Comunidad de Madrid
Aerden,
Academic Journal
Richelle A. C. M. Olde Keizer; Abderrahim Marouane; Wilhelmina S. Kerstjens-Frederikse; A. Chantal Deden; Klaske D. Lichtenbelt; Tinneke Jonckers; Marieke Vervoorn; Maaike Vreeburg; Lidewij Henneman; Linda S. de Vries; Richard J. Sinke; Rolph Pfundt; Servi J. C. Stevens; Peter Andriessen; Richard A. van Lingen; Marcel Nelen; Hans Scheffer; Daphne Stemkens; Cor Oosterwijk; Hans Kristian Ploos van Amstel; Willem P. de Boode; Wendy A. G. van Zelst-Stams; Geert W. J. Frederix; Lisenka E. L. M. Vissers; L Henneman; M M van Haelst; E A Sistermans; M C Cornel; M Misra-Isrie; M M A M Mannens; Q Waisfisz; J M van Hagen; A S Brooks; T S Barakat; E H Hoefsloot; R A van Lingen; C A L Ruivenkamp; A van Haeringen; S Koene; G W E Santen; J W Rutten; B de Koning; S J C Stevens; A van den Wijngaard; M Sinnema; A P A Stegmann; M Vreeburg; M Vervoorn; P Andriessen; D Kasteel; E M Adang; A C Deden; H G Brunner; W P de Boode; H G Yntema; H Scheffer; W van Zelst-Stams; R Pfundt; T Kleefstra; A Marouane; L E L M Vissers; T Rigter; W Rodenburg; M A Swertz; V V AM Knoers; W S Kerstjens-Frederikse; R J Sinke; K J van der Velde; I M van Langen; M E van Gijn; J P van Tintelen; L S de Vries; G W J Frederix; J K Ploos van Amstel; K D Lichtenbelt; R A C M Olde Keizer; R Oegema; C Oosterwijk; D Stemkens
Eur J Pediatr
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.
on behalf of RADICON-NL consortium 2023, 'Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands', European Journal of Pediatrics, vol. 182, no. 6, pp. 2683-2692. https://doi.org/10.1007/s00431-023-04909-1
European Journal of Pediatrics, 182, 6, pp. 2683-2692
Eur J Pediatr.
Academic Journal
R. Koster; R. D. Brandão; D. Tserpelis; C. E. P. van Roozendaal; C. N. van Oosterhoud; K. B. M. Claes; A. D. C. Paulussen; M. Sinnema; M. Vreeburg; V. van der Schoot; C. T. R. M. Stumpel; M. P. G. Broen; L. Spruijt; M. C. J. Jongmans; S. A. J. Lesnik Oberstein; A. S. Plomp; M. Misra-Isrie; F. A. Duijkers; M. J. Louwers; R. Szklarczyk; K. W. J. Derks; H. G. Brunner; A. van den Wijngaard; M. van Geel; M. J. Blok
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Academic Journal
Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C; Ellis, Colin A; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; Veiga De Goes, Fernanda; El Achkar, Christelle M; Doering, Jan Henje; Furia, Francesca; García-Cazorla, Ángeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; Van Berkel, Annemiek; Van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Son Rigby, Charlene; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Møller, Rikke S; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo
Brain
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, SM , Balagura, G, Fitch, E, Helbig, K, Gan, J, Ganesan, S, Kaufman, M C, Ellis, C A, Lewis-Smith, D, Galer, P, Cunningham, K, O'Brien, M , Cosico, M , Baker, K, Darling, A, Veiga de Goes, F, el Achkar, C M , Doering, J H, Furia, F, García-Cazorla, Á, Gardella, E, Geertjens, L, Klein, C, Kolesnik-Taylor, A, Lammertse, H, Lee, J, Mackie, A, Misra -Isrie , M , Olson, H, Sexton, E, Sheidley, B, Smith, L, Sotero, L, Stamberger, H, Syrbe, S, Thalwitzer, K M , van Berkel, A, van Haelst, M , Yuskaitis, C, Weckhuysen, S, Prosser, B, Son Rigby, C, Demarest, S, Pierce, S, Zhang, Y, Møller, R S, Bruining, H, Poduri, A, Zara, F, Verhage, M , Striano, P & Helbig, I 2022, 'Assessing the landscape of STXBP1-related disorders in 534 individuals', Brain, vol. 145, no. 5, pp. 1668-1683. https://doi.org/10.1093/brain/awab327
BRAIN
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Xian, J, Parthasarathy, S, Ruggiero, S
Academic Journal
Simon J. Houtman; Hanna C. A. Lammertse; Annemiek A. van Berkel; Ganna Balagura; Elena Gardella; Jennifer R. Ramautar; Chiara Reale; Rikke S. Møller; Federico Zara; Pasquale Striano; Mala Misra-Isrie; Mieke M. van Haelst; Marc Engelen; Titia L. van Zuijen; Huibert D. Mansvelder; Matthijs Verhage; Hilgo Bruining; Klaus Linkenkaer-Hansen
Frontiers in Physiology, Vol 12 (2021)
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.; Universitat Autònoma de Barcelona
Academic Journal
van der Laan, Liselot; Rooney, Kathleen; Alders, Marielle; Relator, Raissa; McConkey, Haley; Kerkhof, Jennifer; Levy, Michael A.; Lauffer, Peter; Aerden, Mio; Theunis, Miel; Legius, Eric; Tedder, Matthew L.; Vissers, Lisenka E.LM.; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette J.; Wieczorek, Dagmar; Bramswig, Nuria C.; Herget, Theresia; Lopez Gonzalez, Vanesa; Santos-Simarro, Fernando; Torring, Pernille M.; Denomme-Pichon, Anne-Sophie; Isidor, Bertrand; Keren, Boris; Julia, Sophie; Schaefer, Elise; Francannet, Christine; Maillard, Pierre-Yves; Misra-Isrie, Mala; Van Esch, Hilde; Mannens, Marcel M.AM.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
Int J Mol Sci
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664
van der Laan, L, Rooney, K, Alders,M , Relator, R, McConkey, H, Kerkhof, J, Levy, M A, Lauffer, P, Aerden, M , Theunis, M , Legius, E, Tedder, M L, Vissers, L E L M , Koene, S, Ruivenkamp, C, Hoffer, M J V, Wieczorek, D, Bramswig, N C, Herget, T, González, V L P, Santos-Simarro, F, Tørring, P M , Denomme-Pichon, A-S, Isidor, B, Keren, B, Julia, S, Schaefer, E, Francannet, C, Maillard, P-Y, Misra -Isrie , M , van Esch, H, Mannens, M M A M , Sadikovic, B, van Haelst, M M & Henneman, P 2022, 'Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome', International Journal of Molecular Sciences, vol. 23, no. 22, 13664. https://doi.org/10.3390/ijms232213664
International Journal of Molecular Sciences, 23, 22
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 23; Issue 22; Pages: 13664
van der Laan, L, Rooney, K, Alders,
International Journal of Molecular Sciences, 23, 22
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Miriam; Vila, Elisabeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.
Academic Journal
van Berkel, A.A.; Lammertse, H.C.A.; Öttl, M.; Koopmans, F.; Toonen, R.F.; Verhage, M.; Misra-Isrie, M.; Meijer, M.; Smit, A.B.; van Haelst, M.; Dilena, R.; van Hasselt, P.M.; Engelen, M.; van der Sluis, S.
In: Biological Psychiatry Global Open Science . (Biological Psychiatry Global Open Science, January 2024, 4(1):284-298)
Academic Journal
Furia, F.; Sullivan, K. R.; Barbagallo, P.; Boland, M. J.; Ben Zeev, B.; Cossu, A.; Cunningham, K.; Darling, A.; Darra, F.; Driedger, J-H; Garcia-Cazorla, A.; Misra-Isrie, M.; Papastamatis, K.; Pierce, S.; Ruggiero, S. M.; Syrbe, S.; Thalwitzer, K. M.; Ostergaard, M.; Helbig, I.; Sorensen, J. B.; Moller, R. S.; Gardella, E.
Academic Journal
Balagura, G.; Stamberger, H.; Furia, F.; Padilla, A. Soto; Ben Zeev, B.; Bruining, H.; Darling, A.; Garcia-Cazorla, A.; Gardella, E.; Milh, M.; Misra-Isrie, M.; Moller, R. S.; Striano, P.; Syrbe, S.; Thalwitzer, K.; Verhage, M.; Weckhuysen, S.
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosario; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Miriam; Vila, Elisbeth Gabau; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Ma; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Csaszar, Andrea; Karteszi, Judit; Bessenyei, Beata; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.
Academic Journal
Maia, Nuno; Ibarluzea, Nekane; Misra-Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski-Filppula, Riikka; Guitart, Maria; Gabau, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa-Aranzasti, Amaia; Cueto-González, Anna Mª; Chhouk, Brian H.; Yeh, Rebecca C.; Neil, Jennifer E.; Abu-Libde, Bassam; Kleefstra, Tjitske; Elting, Mariet W.; Császár, Andrea; Kárteszi, Judit; Bessenyei, Beáta; van Bokhoven, Hans; Jorge, Paula; van Hagen, Johanna M.; de Brouwer, Arjan P. M.
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
Editorial & Opinion
Schieving JH; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.; de Bot ST; Leiden University Medical Center, Department of Neurology, Leiden, The Netherlands.; van de Pol LA; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Wolf NI; Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, The Netherlands.; Amsterdam Neuroscience, Amsterdam, The Netherlands.; Brilstra EH; University Medical Center Utrecht, Department of Medical Genetics, Utrecht, The Netherlands.; Frints SG; Maastricht University Medical Center+, Department of Clinical Genetics, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW, School for Oncology, FHML, Maastricht University, The Netherlands.; van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Misra-Isrie M; Amsterdam University Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.; Pennings M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Verschuuren-Bemelmans CC; University Medical Center Groningen, University of Groningen, Department of Genetics, Groningen, The Netherlands.; Kamsteeg EJ; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center and Nijmegen, The Netherlands.; Willemsen MA; Radboud University Medical Center, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Department of Pediatric Neurology, Nijmegen, The Netherlands.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
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[검색어] Misra-Isrie, M.
발행연도 제한
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학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어