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'학술논문'
에서 검색결과 185건 | 목록
1~20
Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat -Kievit -Brunner Type with MED12 Mutation
Academic Journal
Siddaramappa J, Patil; Puneeth H, Somashekar; Anju, Shukla; Satish, Siddaiah; Venkatraman, Bhat; Katta M, Girisha; Pooja N, Rao
Journal of Pediatric Genetics. :198-204
Academic Journal
Bonifati V.; Rohe C. F.; Breedveld G. J.; Fabrizio E.; De Mari M.; Tassorelli C.; Tavella A.; Marconi R.; Nicholl D. J.; Chien H. F.; Fincati E.; Abbruzzese G.; Marini P.; De Gaetano A.; Horstink M. W.; Maat Kievit J. A.; Sampaio C.; Antonini A.; Stocchi F.; MONTAGNA, PASQUALE; Toni V.; Guidi M.; Dalla Libera A.; Tinazzi M.; De Pandis F.; Fabbrini G.; Goldwurm S.; de Klein A.; Barbosa E.; Lopiano L.; Martignoni E.; Lamberti P.; Vanacore N.; Meco G.; Oostra B.A.; Italian Parkinson Genetics Network
Neurology, 65, 1, pp. 87-95
Academic Journal
Quadri M; Fang M; Picillo M; Olgiati S; Breedveld GJ; Graafland J; Wu B; Xu F; Erro R; Amboni M; Pappatà S; Quarantelli M; Annesi G; Quattrone A; Chien HF; Barbosa ER; Oostra BA; Barone P; Wang J; BONIFATI, Vincenzo; International Parkinsonism Genetics NetworkBonifati V; Maat Kievit A; Rood J; Boon A; van de Warrenburg B; Delnooz C; Rietveld A; Bloem B; Ferreira J; Correia Guedes L; Tolosa E; Janssens S; Emre M; Hanagasi H; Bilgic B; Elibol B; Socal M; Jardim L; Lu CS; Wu Chou YH; Yeh TH; Atadzhanov M; Kelly P; Lopiano L; Tassorelli C; Pacchetti C; Nappi G; Riboldazzi G; Bono G; Padovani A; Borroni B; Raudino F; Di Fonzo A; Volonte A; Fincati E; Bertolasi L; Tinazzi M; Bonizzato A; Ferracci C; Dalla Libera A; Cortelli P; Capellari S; Marini P; Massaro F; Federico A; Taglia I; Battisti C; Marconi R; Onofrj M; Thomas A; VANACORE, NICOLA; MECO, Giuseppe; FABBRINI, Giovanni; Fabrizio E; MANFREDI, Mario; BERARDELLI, Alfredo; Stocchi F; Vacca L; De Michele G; Criscuolo C; Santoro L; Filla A; De Mari M; Dell C; Iliceto G; Lamberti P; Toni V; Trianni G; Gagliardi M; Saddi V; Francesco S; Cossu G; Melis M.
Human mutation 34 (2013): 1208–1215. doi:10.1002/humu.22373
info:cnr-pdr/source/autori:Quadri, Marialuisa; Fang, Mingyan; Picillo, Marina; Olgiati, Simone; Breedveld, GuidoJ .; Graafland, Josja; Wu, Bin; Xu, Fengping; Erro, Roberto; Amboni, Marianna; Pappata, Sabina; Quarantelli, Mario; Annesi, Grazia; Quattrone, Aldo; Chien, Hsin F.; Barbosa, Egberto R.; Oostra, Ben A.; Barone, Paolo; Wang, Jun; Bonifati, Vincenzo; Bonifati, V.; Maat -Kievit , A.; Rood, J .; Boon, A.; van de Warrenburg, B.; Delnooz, C.; Rietveld, A.; Bloem, B.; Ferreira, J .; Guedes, L. Correia; Tolosa, E.; Janssens, S.; Emre, M.; Hanagasi, H.; Bilgic, B.; Elibol, B.; Socal, M.; Jardim, L.; Chien, Hsin F.; Barbosa, Egberto R.; Lu, Chin-Song; Wu-Chou, Yah-Huei; Yeh, Tu-Hsueh; Atadzhanov, Masharip; Kelly, Paul; Lopiano, L.; Tassorelli, C.; Pacchetti, C.; Nappi, G.; Riboldazzi, G.; Bono, G.; Padovani, A.; Borroni, B.; Raudino, F.; Di Fonzo, A.; Volonte, A.; Fincati, E.; Bertolasi, L.; Tinazzi, M.; Bonizzato, A.; Ferracci, C.; Dalla Libera, A.; Cortelli, P.; Capellari, S.; Marini, P.; Massaro, F.; Federico, A.; Taglia, I.; Battisti, C.; Marconi, R.; Onofrj, M.; Thomas, A.; Vanacore, N.; Meco, G.; Fabbrini, G.; Fabrizio, E.; Manfredi, M.; Berardelli, A.; Stocchi, F.; Vacca, L.; De Michele, G.; Criscuolo, C.; Santoro, L.; Filla, A.; De Mari, M.; Dell'Aquila, C.; Iliceto, G.; Lamberti, P.; Toni, V.; Trianni, G.; Gagliardi, M.; Annesi, G.; Quattrone, A.; Saddi, V.; Cossu, G.; Melis, M./titolo:Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism/doi:10.1002%2Fhumu.22373/rivista:Human mutation/anno:2013/pagina_da:1208/pagina_a:1215/intervallo_pagine:1208–1215/volume:34
Human Mutation, 34, 9, pp. 1208-15
info:cnr-pdr/source/autori:Quadri, Marialuisa; Fang, Mingyan; Picillo, Marina; Olgiati, Simone; Breedveld, Guido
Human Mutation, 34, 9, pp. 1208-15
Academic Journal
Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie ; Lüdecke, Hermann-Josef ; van der Tuin, Karin ; Badura-Stronka, Magdalena ; Belligni, Elga ; Biamino, Elisa ; Bonati, Maria Teresa ; Carvalho, Daniel R. ; Cobben, JanMaarten ; de Man, Stella A. ; Den Hollander, Nicolette S. ; Di Donato, Nataliya ; Garavelli, Livia ; Grønborg, Sabine ; Herkert, Johanna C. ; Hoogeboom, A. Jeannette M. ; Jamsheer, Aleksander ; Latos-Bielenska, Anna ; Maat-Kievit, Anneke ; Magnani, Cinzia ; Marcelis, Carlo ; Mathijssen, Inge B. ; Nielsen, Maartje ; Otten, Ellen ; Ousager, Lilian B. ; Pilch, Jacek ; Plomp, Astrid ; Poke, Gemma ; Poluha, Anna ; Posmyk, Renata ; Rieubland, Claudine ; Silengo, Margharita ; Simon, Marleen ; Steichen, Elisabeth ; Stumpel, Connie ; Szakszon, Katalin ; Polonkai, Edit ; van den Ende, Jenneke ; van der Steen, Antony ; van Essen, Ton ; van Haeringen, Arie ; van Hagen, Johanna M. ; Verheij, Joke B.G.M. ; Mannens, Marcel M. ; Hennekam, Raoul C.
In European Journal of Medical Genetics May 2015 58(5):279-292
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
Academic Journal
Dorien Schepers; Alexander J Doyle; Gretchen Oswald; Elizabeth Sparks; Loretha Myers; Patrick J Willems; Sahar Mansour; Michael A Simpson; Helena Frysira; Anneke Maat-Kievit; Rick Van Minkelen; Jeanette M Hoogeboom; Geert R Mortier; Hannah Titheradge; Louise Brueton; Lois Starr; Zornitza Stark; Charlotte Ockeloen; Charles Marques Lourenco; Ed Blair; Emma Hobson; Jane Hurst; Isabelle Maystadt; Anne Destrée; Katta M Girisha; Michelle Miller; Harry C Dietz; Bart Loeys; Lut Van Laer
European Journal of Human Genetics
Academic Journal
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grunewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.P.M.; Hamel, B.C.J.; Kleefstra, T.; Yntema, H.G.; Campistol, J.; Vilaseca, M.A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; van der Haar, S.; Meijers-Heijboer, H.E.; Hofstede, F.; Johnson, D.; Kant, S.G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J.A.; Monteiro, J.P.; Munnich, A.; Muntau, A.C.; Nassogne, M.C.; Osaka, H.; Ounap, K.; Pinard, J.M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias Vasquez, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C.E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; van Esch, H.; Waltz, S.; Wamelink, M.M.; Pouwels, P.J.; Errami, A.; van der Knaap, M.S.; Jakobs, C.; Mancini, G.M.S.; Salomons, G.S.
JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
van de Kamp,J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J , Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat -Kievit , J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O A, Ribes, A, Arias, A, Yaplito-Lee, J , Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C A J M, Mancini, G M & Salomons, G S 2013, 'Phenotype and genotype in 101 males with X-linked creatine transporter deficiency', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472. https://doi.org/10.1136/jmedgenet-2013-101658
Journal of Medical Genetics, 50, 7, pp. 463-72
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
van de Kamp,
Journal of Medical Genetics, 50, 7, pp. 463-72
Academic Journal
Jansen, An; Sancak, Ozgur; D'Agostino, Maria Daniela; Badhwar, Amanpreet; Roberts, Penelope; Gobbi, Gabriella; Wilkinson, Ralph; Melanson, Denis; Tampieri, Donatella; Koenekoop, Robert; Gans, Mark; Maat-Kievit, Anneke; Goedbloed, Miriam; van den Ouweland, Ans M W; Nellist, Mark; Pandolfo, Massimo; McQueen, Mary; Sims, Katherine; Thiele, Elisabeth A; Dubeau, Francois; Andermann, Frederick; Kwiatkowski, David J; Halley, Dicky J J; Andermann, Eva
Annals of Neurology. 60:528-539
Academic Journal
Paulussen, A.D.C.; Schrander-Stumpel, C.T.; Tserpelis, D.C.J.; Spee, M.K.M.; Stegmann, A.P.A.; Mancini, G.M.; Brooks, A.S.; Collee, M.; Maat-Kievit, A.; Simon, M.E.H.; Bever, Y. van; Stolte-Dijkstra, I.; Kerstjens-Frederikse, W.S.; Herkert, J.C.; Essen, A.J. van; Lichtenbelt, K.D.; Haeringen, A. van; Kwee, M.L.; Lachmeijer, A.M.A.; Tan-Sindhunata, G.M.B.; Maarle, M.C. van; Arens, Y.H.J.M.; Smeets, E.E.J.G.L.; Die-Smulders, C.E. de; Engelen, J.J.M.; Smeets, H.J.; Herbergs, J.
Paulussen, A D C, Schrander-Stumpel, C T, Tserpelis, D C J , Spee, M K M, Stegmann, A P A, Mancini, G M, Brooks, A S, Collee, M, Maat -Kievit , A, Simon, M E H, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, W S, Herkert, J C, van Essen, A J , Lichtenbelt, K D, van Haeringen, A, Kwee, M L, Lachmeijer, A M A, Sindhunata, M B, van Maarle, M C, Arens, Y H J M, Smeets, E E J G, de Die-Smulders, C E, Engelen, J J M, Smeets, H J & Herbergs, J 2010, 'The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes', European Journal of Human Genetics, vol. 18, no. 9, pp. 999-1005. https://doi.org/10.1038/ejhg.2010.70
Academic Journal
Shkalim, Vered; Baris, Hagit N.; Gal, Gavriel; Gleiss, Ruth; Calderon, Shlomo; Wessels, Marja; Maat-Kievit, Anneke; Menten, Björn; de Baere, Elfride; Hennekam, Raoul C. M.; Schirmacher, Anja; Bale, Sherri; Shohat, Mordechai; Willems, Patrick J.
American Journal of Medical Genetics Part A. :2700-2705
Academic Journal
Dudok-de Wit, A. C.; Tibben, A.; Duivenvoorden, H. J.; Niermeijer, M. F.; Passchier, J.; Trijsburg, R. W.; Lindhout, D.; Meijers-Heijboer, E. J.; Frets, P. G.; Lodder, L. N.; Zoetewij, M. W.; Klijn, J. G. M.; Brocker-Vriends, A.; van Haeringen, A.; Helderman, A. T. J. M.; Hilhorst-Hofstee, Y.; Kant, S.; Maat-Kievit, J. A.; Oosterwijk, J. C.; van der Smagt, J. J.; Vegter-van der Vlis, M.; Vries-van der Weerd, M. A. C. S.; Zoeteweij, M. W.; Bakker, E.; Devilee, P.; Losekoot, M.; Tops, C.; Cornelisse, C. J.; Vasen, H. F. A.
American journal of medical genetics. 75(1):62-74
Academic Journal
DudokdeWit, A. C.; Tibben, A.; Duivenvoorden, H. J.; Niermeijer, M. F.; Passchier, J.; Lindhout, D.; Meijers-Heijboer, E. J.; Frets, P. G.; Lodder, L. N.; Trijsburg, R. W.; Zoetewij, M. W.; Klijn, J. G.M.; Bröcker-Vriends, A.; Van Haeringen, A.; Helderman, A. T.J.M.; Hilhorst-Hofstee, Y.; Kant, S.; Maat-Kievit, J. A.; Oosterwijk, J. C.; Van Der Smagt, J. J.; Vegter-van Der Vlis, M.; Vries-van Der Weerd, M. A.C.S.; Zoeteweij, M. W.; Bakker, E.; Devilee, P.; Losekoot, M.; Tops, C.; Cornelisse, C. J.; Vasen, H. F.A.
Journal of Medical Genetics. 35(9):745-754
Academic Journal
Swieten, J. van; Brusse, E.; Graaf, B.M. de; Krieger, E.; Graaf, R van de; Koning, I. de; Maat-Kievit, A.; Leegwater, P.A.J.; Dooijes, D.; Oostra, B.A.; Heutink, P.
American Journal of Human Genetics, 72, 4, pp. 1-1
Academic Journal
C. SCHRANDER STUMPEL; P. MEINECKE; G. WILSON; G. GILLESSEN KAESBACH; S. TINSCHERT; R. KONIG; N. PHILIP; RIZZO, Renata; J. SCHRANDER; L. PFEIFFER; A. MAAT KIEVIT; I. VAN DER BURGT; T. VAN ESSEN; E. LATTA; U. HILIG; A. VERLOES; H. JOURNEL; J. P. FRYNS
European Journal of Pediatrics. 153:438-445
Academic Journal
Vegt R; Department of Psychiatry, Erasmus Medical Centre, Rotterdam, The Netherlands.; Bertoli-Avella AM; Tulen JH; de Graaf B; Verkerk AJ; Vervoort J; Twigt CM; Maat-Kievit A; van Tuijl R; van der Lijn M; Hengeveld MW; Oostra BA
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Prenatal Diagnosis. 13:377-384
Academic Journal
Journal of Clinical and Experimental Neuropsychology. 21:831-836
Academic Journal
European Journal of Human Genetics. 20(2):134-140
Academic Journal
DudokdeWit, AC; Tibben, A; Duivenvoorden, HJ; Niermeijer, MF; Passchier, J; Trijsburg, RW; Lindhout, D; Meijers-Heijboer, EJ; Frets, PG; Lodder, LN; Zoetewij, MW; Klijn, JGM; Brocker-Vriends, A; van Haeringen, A; Helderman, ATJM; Hilhorst-Hofstee, Y; Kant, S; Maat-Kievit, JA; Oosterwijk, JC; van der Smagt, JJ; Vegter-van der Vlis, M; Vries-van der Weerd, MACS; Zoeteweij, MW; Bakker, E; Devilee, P; Losekoot, M; Tops, C; Cornelisse, CJ; Vasen, HFA
American Journal of Medical Genetics. 75(1):62-74
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[검색어] Maat-Kievit, J A.
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