학술논문
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'학술논문'
에서 검색결과 80건 | 목록
1~20
Academic Journal
Karstensen, Helena Gásdal ; Rendtorff, Nanna Dahl ; Hindbæk, Lone Sandbjerg ; Colombo, Roberto ; Stein, Amelie ; Birkebæk, Niels Holtum ; Hartmann-Petersen, Rasmus ; Lindorff-Larsen, Kresten ; Højland, Allan Thomas ; Petersen, Michael Bjørn ; Tranebjærg, Lisbeth
In European Journal of Medical Genetics March 2020 63(3)
Academic Journal
Herlin, Morten ; Bay Bjørn, Anne-Mette ; Jørgensen, Laura Krogh ; Trolle, Birgitta ; Petersen, Michael Bjørn
In Fertility and Sterility September 2018 110(4):746-753
Academic Journal
Hougaard, Dan Dupont; Hestoy, Danjal Hofgaard; Højland, Allan Thomas; Gaihede, Michael; Petersen, Michael Bjørn
Academic Journal
Keramida, Christina; Papoulidis, Ioannis; Pappa, Efterpi; Liehr, Thomas; Kalmantis, Konstantinos; Gerede, Angeliki; Pavlidou, Efterpi; Petersen, Michael Bjorn; Manolakos, Emmanouil
Experimental and Therapeutic Medicine. June, 2024, Vol. 27 Issue 6
Academic Journal
Sheyanth, Inger Norlyk; Lolas, Ihab Bishara; Okkels, Henrik; Kiruparajan, Ligor Pradeep; Abildgaard, Søren Kromann; Petersen, Michael Bjørn
Academic Journal
Sheyanth, Inger Norlyk; Højland, Allan Thomas; Okkels, Henrik; Lolas, Ihab; Thorup, Christian; Petersen, Michael Bjørn
Academic Journal
Malfait, Fransiska; Symoens, Sofie; Goemans, Nathalie; Gyftodimou, Yolanda; Holmberg, Eva; López-González, Vanesa; Mortier, Geert; Nampoothiri, Sheela; Petersen, Michael Bjorn; Paepe, Anne De
Academic Journal
Academic Journal
Herlin, Morten; Bay Bjørn, Anne-Mette; Rasmussen, Maria; Trolle, Birgitta; Petersen, Michael Bjørn; Bjørn, Anne-Mette Bay
Conference
Sheyanth, Inger Norlyk; Petersen, Michael Bjørn; Kiruparajan, Ligor Pradeep; Abildgaard, Søren Kromann Opstrup
Sheyanth, I N, Petersen, M B, Kiruparajan, L P & Abildgaard, S K O 2020, 'First reported case of Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese/Autosomal Dominant Drusen) in Scandinavia', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 807-808. https://doi.org/10.1038/s41431-020-00741-5
Sheyanth, I N, Petersen, M B, Kiruparajan, L P & Abildgaard, S K O 2020, ' First reported case of Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese/Autosomal Dominant Drusen) in Scandinavia ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 807-808 . https://doi.org/10.1038/s41431-020-00741-5
Sheyanth, I N, Petersen, M B, Kiruparajan, L P & Abildgaard, S K O 2020, ' First reported case of Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese/Autosomal Dominant Drusen) in Scandinavia ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 807-808 . https://doi.org/10.1038/s41431-020-00741-5
Academic Journal
Papoulidis, Ioannis; Siomou, Elisavet; Sotiriadis, Alexandros; Efstathiou, George; Psara, Anastasia; Sevastopoulou, Eirini; Anastasakis, Eleftherios; Sifakis, Stavros; Tsiligianni, Theodora; Kontodiou, Maria; Malamaki, Christine; Tzimina, Maria; Petersen, Michael Bjorn; Manolakos, Emmanouil; Athanasiadis, Apostolos
Prenatal Diagnosis. Jul 01, 2012 32(7):680-685
Academic Journal
American Journal Of Medical Genetics - A. Mar 01, 2011 155(3):534-539
Academic Journal
Dohrn, N; Le, V Q; Petersen, Astrid Christine; Skovbo, P; Pedersen, I S; Ernst, A; Krarup, H; Petersen, Michael Bjørn
Dohrn, N, Le, V Q, Petersen, A C, Skovbo, P, Pedersen, I S, Ernst, A, Krarup, H & Petersen, M B 2015, 'ECEL1 mutation causes fetal arthrogryposis multiplex congenita', American Journal of Medical Genetics. Part A, vol. 167, no. 4, pp. 731-743. https://doi.org/10.1002/ajmg.a.37018
Academic Journal
Bugge, Merete; Bak, Mads; Hansen, Claus; Tommerup, Niels; Petersen, Michael Bjorn; Collins, Andrew; Hertz, Jens Michael; Brandt, Carsten Alfred; Eiberg, Hans; Lundsteen, Claes; Bruun-Petersen, Gert; deLozier, Celia Dawn; Lespinasse, James; Tranebjaerg, Lisbeth; Hahnemann, Johanne M D; Rasmussen, Kirsten; Duprez, Laurence
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L, Tommerup, N & Petersen, M B 2007, ' Non-disjunction of chromosome 13 ', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-2010 . https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, 'Non-disjunction of chromosome 13.', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10. https://doi.org/10.1093/hmg/ddm148
Bugge, M, Collins, A, Hertz, J M, Eiberg, H, Lundsteen, C, Brandt, C A, Bak, M, Hansen, C, Delozier, C D, Lespinasse, J, Tranebjaerg, L, Hahnemann, J M D, Rasmussen, K, Bruun-Petersen, G, Duprez, L & Tommerup, N 2007, 'Non-disjunction of chromosome 13.', Human Molecular Genetics, vol. 16, no. 16, pp. 2004-10. https://doi.org/10.1093/hmg/ddm148
Academic Journal
Bugge, Merete; DeLozier-Blanchet, Celia; Bak, Mads; Brandt, Carsten Alfred; Hertz, Jens Michael; Nielsen, Jytte Bieber; Duprez, Laurence; Petersen, Michael Bjorn
Bugge, M, deLozier-Blanchet, C, Bak, M, Brandt, C A, Hertz, J M, Nielsen, J B, Duprez, L & Petersen, M B 2005, 'Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases', American Journal of Medical Genetics-Part A, vol. 132A, no. 3, pp. 310-3. https://doi.org/10.1002/ajmg.a.30474
Conference
Hestoy, Danjal Hofgaard; Hougaard, Dan Dupont; Højland, Allan Thomas; Gaihede, Michael; Petersen, Michael Bjørn
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, 'Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G', European Human Genetics Conference 2017 (ESHG), København, Denmark, 27/05/2017-30/05/2017.
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G. in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi. pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017.
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, ' Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G ', European Human Genetics Conference 2017 (ESHG), København, Denmark, 27/05/2017-30/05/2017 .
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G. in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi. pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017.
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, ' Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G ', European Human Genetics Conference 2017 (ESHG), København, Denmark, 27/05/2017-30/05/2017 .
Hestoy, D H, Hougaard, D D, Højland, A T, Gaihede, M & Petersen, M B 2017, Audiological and vestibular pathologies in subjects harbouring the mtDNA mutation A3243G . in XIV Årsmøde i Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi . pp. 40, Dansk Selskab for Otorhinolaryngologi, Hoved-& Halskirurgi, Nyborg, Denmark, 20/04/2017 .
Conference
Larsen, L.H. G.; Hao, Q.; Kako, N.; Olofsson, K.; Miranda, M.; Kinali, M.; Borggräfe, I.; Svaneby, D.; Nielsen, J. E. K.; Lavard, L.; Uldall, P.; Talvik, T.; Talvik, I.; Fusco, C.; Spagnoli, C.; Frangu, M.; Born, P. A.; Striano, P.; Pal, D.; Oates, S.; Gellert, P.; Nikanorova, M.; Petersen, Michael Bjørn; Lautrup, Charlotte Kvist; Brusgaard, K.; Dunkhase-Hein, I. U.; Rokkjær, M.; Bayat, A.; Petkov, Y.; Børresen, M. L.; Jepsen, B.; Marjanovic, D.; Hjalgrim, H.; Dahl, A.; Møller, R. S.
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, 'Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic parents', Epilepsia, vol. 58, no. Suppl. 5, p0995, pp. S176-S177. https://doi.org/10.1111/epi.13944
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, 'Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren', 32nd International Epilepsy Congress, Barcelona, Spain, 02/09/2017-06/09/2017.
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, ' Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren ', 32nd International Epilepsy Congress, Barcelona, Spain, 02/09/2017-06/09/2017 .
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, 'Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren', 32nd International Epilepsy Congress, Barcelona, Spain, 02/09/2017-06/09/2017.
Larsen, L H G, Hao, Q, Kako, N, Olofsson, K, Miranda, M, Kinali, M, Borggräfe, I, Svaneby, D, Nielsen, J E K, Lavard, L, Uldall, P, Talvik, T, Talvik, I, Fusco, C, Spagnoli, C, Frangu, M, Born, P A, Striano, P, Pal, D, Oates, S, Gellert, P, Nikanorova, M, Petersen, M B, Lautrup, C K, Brusgaard, K, Dunkhase-Hein, I U, Rokkjær, M, Bayat, A, Petkov, Y, Børresen, M L, Jepsen, B, Marjanovic, D, Hjalgrim, H, Dahl, A & Møller, R S 2017, ' Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic paren ', 32nd International Epilepsy Congress, Barcelona, Spain, 02/09/2017-06/09/2017 .
Academic Journal
Ingerslev , Hans Jakob; Degn, Birte; Hnida, Christina; Diemer, Tue; Petersen, Michael Bjørn; Olesen, Tine Nørregaard; Krarup, Henrik; Pedersen, Inge Søkilde
Ingerslev, H J, Degn, B, Hnida, C, Diemer, T, Petersen, M B, Olesen, T N, Krarup, H & Pedersen, I S 2018, 'Præimplantationsgenetisk Diagnostik', Ugeskrift for Laeger, bind 180, V09170692, s. 2-5. < http://ugeskriftet.dk/files/scientific_article_files/2018-03/V09170692_1.pdf >
Ingerslev, H J, Degn, B, Hnida, C, Diemer, T, Petersen, M B, Olesen, T N, Krarup, H & Pedersen, I S 2018, ' Præimplantationsgenetisk Diagnostik ', Ugeskrift for Laeger, bind 180, V09170692, s. 2-5 . < http://ugeskriftet.dk/files/scientific_article_files/2018-03/V09170692_1.pdf >
Ingerslev, H J, Degn, B, Hnida, C, Diemer, T, Petersen, M B, Olesen, T N, Krarup, H & Pedersen, I S 2018, ' Præimplantationsgenetisk Diagnostik ', Ugeskrift for Laeger, bind 180, V09170692, s. 2-5 . < http://ugeskriftet.dk/files/scientific_article_files/2018-03/V09170692_1.pdf >
Conference
Rasmussen, Maria; Sunde, Lone; Nielsen, Marlene Louise; Ramsing, Mette; Petersen, Astrid; Hjortshøj, Tina Duelund; Olsen, Tina Elisabeth; Tabor, Ann; Hertz, Jens Michael; Johnsen, Iben; Sperling, Lene Søndergaard; Petersen, Olav Bjørn; Jensen, Uffe Birk; Petersen, Michael Bjørn; Lildballe, Dorte Launholt
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J MI, Johnsen, I, Sperling, L, Petersen, O B, Jensen, U B, Petersen, M B & Lidballe, D L 2016, ' Fetal Kidney Anomalies : Next Generation Sequencing ', European Society of Human Genetics Conference 2016, Barcelona, Spanien, 21/05/2016-24/05/2016 .
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J MI, Johnsen, I, Sperling, L, Petersen, O B, Jensen, U B, Petersen, M B & Lidballe, D L 2016, 'Fetal Kidney Anomalies: Next Generation Sequencing'.
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J M, Johnsen, I, Sperling, L S, Petersen, O B, Jensen, U B, Petersen, M B & Lildballe, D L 2016, 'Fetal Kidney Anomalies: Next Generation Sequencing', European Society of Human Genetics Conference 2016, Barcelona, Spain, 21/05/2016-24/05/2016.
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J MI, Johnsen, I, Sperling, L, Petersen, O B, Jensen, U B, Petersen, M B & Lidballe, D L 2016, 'Fetal Kidney Anomalies: Next Generation Sequencing'.
Rasmussen, M, Sunde, L, Nielsen, M L, Ramsing, M, Petersen, A, Hjortshøj, T D, Olsen, T E, Tabor, A, Hertz, J M, Johnsen, I, Sperling, L S, Petersen, O B, Jensen, U B, Petersen, M B & Lildballe, D L 2016, 'Fetal Kidney Anomalies: Next Generation Sequencing', European Society of Human Genetics Conference 2016, Barcelona, Spain, 21/05/2016-24/05/2016.
Academic Journal
Herlin, M & Petersen, M B 2017, 'Mayer-Rokitansky-Küster-Hauser-syndrom', Ugeskrift for Laeger, bind 179, nr. 12, V10160744, s. 1066-1070. < http://ugeskriftet.dk/videnskab/mayer-rokitansky-kuster-hauser-syndrom >
Herlin, M & Petersen, M B 2017, ' Mayer-Rokitansky-Küster-Hauser-syndrom ', Ugeskrift for Laeger, bind 179, nr. 12, V10160744, s. 1066-1070 . < http://ugeskriftet.dk/videnskab/mayer-rokitansky-kuster-hauser-syndrom >
Herlin, M & Petersen, M B 2017, ' Mayer-Rokitansky-Küster-Hauser-syndrom ', Ugeskrift for Laeger, bind 179, nr. 12, V10160744, s. 1066-1070 . < http://ugeskriftet.dk/videnskab/mayer-rokitansky-kuster-hauser-syndrom >
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[AR] Petersen, Michael Bjørn
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