학술논문
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'학술논문'
에서 검색결과 787건 | 목록
1~20
Academic Journal
Tonduti, Davide; Zambon, Alberto A; Ghezzi, Daniele; Lamantea, Eleonora; Izzo, Rossella; Parazzini, Cecilia; Baldoli, Cristina; van der Knaap, Marjo S; Fumagalli, Francesca; van der Knaap, M.S.
Tonduti, D, Zambon, A A, Ghezzi, D, Lamantea, E, Izzo, R, Parazzini, C, Baldoli, C, van der Knaap , M S & Fumagalli, F 2022, 'Expanding the Spectrum of NUBPL-Related Leukodystrophy', Neuropediatrics, vol. 54, no. 3, pp. 161-166. https://doi.org/10.1055/s-0043-1764214
Tonduti, D, Zambon, A A, Ghezzi, D, Lamantea, E, Izzo, R, Parazzini, C, Baldoli, C,van der Knaap , M S, Fumagalli, F & van der Knaap , M S 2023, 'Expanding the Spectrum of NUBPL-Related Leukodystrophy', Neuropediatrics, vol. 54, no. 3, pp. 161-166. https://doi.org/10.1055/s-0043-1764214
van der Knaap , M S 2022, 'Expanding the Spectrum of NUBPL-Related Leukodystrophy.', Neuropediatrics, vol. 54, no. 3, pp. 161-166. https://doi.org/10.1055/s-0043-1764214
Tonduti, D, Zambon, A A, Ghezzi, D, Lamantea, E, Izzo, R, Parazzini, C, Baldoli, C,
Academic Journal
Academic Journal
Scala, M.; Wortmann, S.B.; Kaya, N.; Stellingwerff, M.D.; Pistorio, A.; Glamuzina, E.; van Karnebeek, C.D.; Skrypnyk, C.; Iwanicka-Pronicka, K.; Piekutowska-Abramczuk, D.; Ciara, E.; Tort, F.; Sheidley, B.; Poduri, A.; Jayakar, P.; Jayakar, A.; Upadia, J.; Walano, N.; Haack, T.B.; Prokisch, H.; Aldhalaan, H.; Karimiani, E.G.; Yildiz, Y.; Ceylan, A.C.; Santiago-Sim, T.; Dameron, A.; Yang, H.; Toosi, M.B.; Ashrafzadeh, F.; Akhondian, J.; Imannezhad, S.; Mirzadeh, H.S.; Maqbool, S.; Farid, A.; Al-Muhaizea, M.A.; Alshwameen, M.O.; Aldowsari, L.; Alsagob, M.; Alyousef, A.; Almass, R.; AlHargan, A.; Alwadei, A.H.; AlRasheed, M.M.; Colak, D.; Alqudairy, H.; Khan, S.; Lines, M.A.; Cazorla, M.; Ribes, A.; Morava, E.; Bibi, F.; Haider, S.; Ferla, M.P.; Taylor, J.C.; Alsaif, H.S.; Firdous, A.; Hashem, M.; Shashkin, C.; Koneev, K.; Kaiyrzhanov, R.; Efthymiou, S.; Genomics, Q.S.; Schmitt-Mechelke, T.; Ziegler, A.; Issa, M.Y.; Elbendary, H.M.; Striano, P.; Alkuraya, F.S.; Zaki, M.S.; Gleeson, J.G.; Barakat, T.S.; Bierau, J.; van der Knaap, M.S.; Maroofian, R.; Houlden, H.
Hum Mutat
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E,van Karnebeek, C D, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, T B, Prokisch, H, Aldhalaan, H, Karimiani, E G, Yildiz, Y, Ceylan, A C, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, M B, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, H S, Maqbool, S, Farid, A, Al-Muhaizea, M A, Alshwameen, M O, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, A H, AlRasheed, M M, Colak, D, Alqudairy, H, Khan, S, Lines, M A, García Cazorla, M Á, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, M P, Taylor, J C, Alsaif, H S, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, Q S, Schmitt-Mechelke, T, Ziegler, A, Issa, M Y, Elbendary, H M, Striano, P, Alkuraya, F S, Zaki, M S, Gleeson, J G, Barakat, T S, Bierau, J, van der Knaap , M S, Maroofian, R & Houlden, H 2022, 'Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency', Human Mutation, vol. 43, no. 3, pp. 403-419. https://doi.org/10.1002/humu.24326
Human Mutation, 43, 3, pp. 403-419
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
Scala, M, Wortmann, S B, Kaya, N, Stellingwerff, M D, Pistorio, A, Glamuzina, E,
Human Mutation, 43, 3, pp. 403-419
Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy.
Academic Journal
Yska HAF; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.; Stellingwerff MD; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Amsterdam Neuroscience, VU University, Amsterdam, Netherlands.; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Center, Amsterdam, Netherlands.; Roosendaal SD; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Center, Amsterdam, Netherlands.; Voermans MMC; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.; van der Knaap MS; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Amsterdam Neuroscience, VU University, Amsterdam, Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.; Pouwels PJW; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Center, Amsterdam, Netherlands.; Engelen M; Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.; Amsterdam Neuroscience, University of Amsterdam, Amsterdam, Netherlands.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Stellingwerff MD; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Al-Saady ML; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Chan KS; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Charlestown, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA.; Dvorak A; Department of Physics and Astronomy, University of British Columbia, Vancouver, BC, Canada.; Marques JP; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Kolind S; Department of Physics and Astronomy, University of British Columbia, Vancouver, BC, Canada.; Schoenmakers DH; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Medicine for Society, Platform at Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; van Voorst R; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Roosendaal SD; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Barkhof F; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Institutes of Neurology and Healthcare Engineering, University College London, London, UK.; Wolf NI; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands.; Berkhof J; Department of Epidemiology and Data Science, Amsterdam UMC Location Vrije Universiteit, Amsterdam, The Netherlands.; Pouwels PJW; Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers and Amsterdam Neuroscience, Amsterdam, The Netherlands.; van der Knaap MS; Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Vrije Universiteit, Amsterdam, The Netherlands. ms.vanderknaap@amsterdamumc.nl.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands. ms.vanderknaap@amsterdamumc.nl.
Publisher: Springer International Country of Publication: Germany NLM ID: 9114774 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1084 (Electronic) Linking ISSN: 09387994 NLM ISO Abbreviation: Eur Radiol Subsets: MEDLINE
Academic Journal
Stutterd, C.A. ; Vanderver, A. ; Lockhart, P.J. ; Helman, G. ; Pope, K. ; Uebergang, E. ; Love, C. ; Delatycki, M.B. ; Thorburn, D. ; Mackay, M.T. ; Peters, H. ; Kornberg, A.J. ; Patel, C. ; Rodriguez-Casero, V. ; Waak, M. ; Silberstein, J. ; Sinclair, A. ; Nolan, M. ; Field, M. ; Davis, M.R. ; Fahey, M. ; Scheffer, I.E. ; Freeman, J.L. ; Wolf, N.I. ; Taft, R.J. ; van der Knaap, M.S. ; Simons, C. ; Leventer, R.J.
In European Journal of Medical Genetics September 2022 65(9)
Academic Journal
Nederlands Tijdschrift voor Geneeskunde. 146:1933-1936
Academic Journal
van Voorst, R.J.; Schoenmakers, D.H.; van Beelen, I.; van der Knaap, M.S.; Gavazzi, F.; Vanderver, A.; Chapleau, A.; Bernard, G.; Krägeloh-Mann, I.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2025, 20(1))
Academic Journal
W.L. Smit; R.J. de Boer; B.J. Meijer; C.N. Spaan; M. van Roest; P.J. Koelink; J. Koster; E. Dekker; T.E.M. Abbink; M.S. van der Knaap; G.R. van den Brink; V. Muncan; J. Heijmans
Stem Cell Research, Vol 55, Iss , Pp 102499- (2021)
Academic Journal
Hermens, M, van der Knaap , M S, Kamsteeg, E-J & Willemsen, M A 2018, 'A brother and sister with intellectual disability and characteristic neuroimaging findings', European Journal of Paediatric Neurology, vol. 22, no. 5, pp. 866-869. https://doi.org/10.1016/j.ejpn.2018.06.005
European Journal of Paediatric Neurology, 22, 5, pp. 866-869
European Journal of Paediatric Neurology, 22, 5, pp. 866-869
Academic Journal
Beerepoot, S.; Schoenmakers, D.H.; van der Knaap, M.S.; Wolf, N.I.; Hollak, C.E.M.; Fumagalli, F.; Locatelli, S.; Groeschel, S.; Laugwitz, L.; Schöls, L.; Hengel, H.; Schiffmann, R.; Wong, S.; Boespflug-Tanguy, O.; Sevin, C.; Nadjar, Y.; Bley, A.; Mochel, F.; Horn, M.A.; Baldoli, C.; Gieselmann, V.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, September 2025, 48(5))
Academic Journal
In: GLIA . (GLIA, September 2025, 73(9):1899-1909)
Academic Journal
Tijdschrift voor Kindergeneeskunde. (1):36-38
Academic Journal
Steenweg, M.E.; van Berge, L.; van Berkel, C.G.M.; de Coo, I.F.M.; Temple, I.K.; Brockmann, K.; Mendonça, C.I.P.; Vojta, S.; Kolk, A.; Peck, D.; Carr, L.; Uziel, G.; Feigenbaum, A.; Blaser, S.; Scheper, G.C.; van der Knaap, M.S.
Steenweg, M E, van Berge, L, van Berkel, C G M, de Coo, I F M, Temple, I K, Brockmann, K, Mendonca, C I P, Vojta, S, Kolk, A, Peck, D, Carr, L, Uziel, G, Feigenbaum, A, Blaser, S, Scheper, G C & van der Knaap , M S 2012, 'Early-Onset LBSL: How Severe Does It Get?', Neuropediatrics, vol. 43, no. 6, pp. 332-338. https://doi.org/10.1055/s-0032-1329395
Academic Journal
Tillema, J.M.; Derks, M.G.M.; Pouwels, P.J.W.; de Graaf, P.; van Rappard, D.F.; Barkhof, F.; Steenweg, M.E.; van der Knaap, M.S.; Wolf, N.I.
Ann Clin Transl Neurol
Tillema, J M, Derks, M G M, Pouwels, P J W, de Graaf, P,van Rappard, D F, Barkhof, F, Steenweg, M E, van der Knaap , M S & Wolf, N I 2015, 'Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy', Annals of Clinical and Translational Neurology, vol. 2, no. 9, pp. 932-940. https://doi.org/10.1002/acn3.232
Tillema, J M, Derks, M G M, Pouwels, P J W, de Graaf, P,
Academic Journal
Ann Clin Transl Neurol
Klok, M D, Bakels, H S, Postma, N L,van Spaendonk, R M L, van der Knaap , M S & Bugiani, M 2015, 'Interferon-alpha and the calcifying microangiopathy in Aicardi-Goutieres syndrome', Annals of Clinical and Translational Neurology, vol. 2, no. 7, pp. 774-779. https://doi.org/10.1002/acn3.213
Klok, M D, Bakels, H S, Postma, N L,
Academic Journal
Vanderver, A.; Tonduti, D.; Kahn, I.; Schmidt, J.; Medne, L.; Vento, J.; Chapman, K.A.; Lanpher, B.; Pearl, P.; Gropman, A.; Lourenco, C.; Bamforth, J.S.; Sharpe, C.; Pineda, M.; Schallner, J.; Bodamer, O.; Orcesi, S.; Oberstein, S.A.; Sistermans, E.A.; Yntema, H.G.; Bonnemann, C.; Waldman, A.T.; van der Knaap, M.S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Vanderver, A, Tonduti, D, Kahn, I, Schmidt, J, Medne, L, Vento, J, Chapman, K A, Lanpher, B, Pearl, P, Gropman, A, Lourenco, C, Bamforth, J S, Sharpe, C, Pineda, M, Schallner, J, Bodamer, O, Orcesi, S, Oberstein, S A J L, Sistermans, E A, Yntema, H G, Bonnemann, C, Waldman, A T &van der Knaap , M S 2014, 'Characteristic Brain Magnetic Resonance Imaging Pattern in Patients With Macrocephaly and PTEN Mutations', American Journal of Medical Genetics Part A, vol. 164, no. 3, pp. 627-633. https://doi.org/10.1002/ajmg.a.36309
American Journal of Medical Genetics. Part A, 164, 3, pp. 627-33
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Vanderver, A, Tonduti, D, Kahn, I, Schmidt, J, Medne, L, Vento, J, Chapman, K A, Lanpher, B, Pearl, P, Gropman, A, Lourenco, C, Bamforth, J S, Sharpe, C, Pineda, M, Schallner, J, Bodamer, O, Orcesi, S, Oberstein, S A J L, Sistermans, E A, Yntema, H G, Bonnemann, C, Waldman, A T &
American Journal of Medical Genetics. Part A, 164, 3, pp. 627-33
Academic Journal
Oudejans, E.; Witkamp, D.; Schonewille, P.; Adelman, M.R.; Hu-A-Ng, G.V.; Hoogterp, L.; van Rooijen-van Leeuwen, G.; van der Laan, R.; Witvliet, J.J.; Abbink, T.E.M.; van der Knaap, M.S.; Weber, N.C.; Preckel, B.; Kerindongo, R.P.
In: Pediatric Neurology . (Pediatric Neurology, June 2025, 167:66-76)
Academic Journal
Tacke, Z.C.A.; Eikelenboom, M.J.; Vermeulen, R.J.; van der Knaap, M.S.; Euser, A.M.; van der Valk, P.; Kaspers, G.J.L.
Tacke, Z C A, Eikelenboom, M J, Vermeulen, R J, van der Knaap , M S, Euser, A M, van der Valk, P & Kaspers, G J L 2014, 'Childhood Lymphomatoid Granulomatosis: A Report of 2 Cases and Review of the Literature', Journal of Pediatric Hematology / Oncology, vol. 36, no. 7, pp. E416-E422. https://doi.org/10.1097/MPH.0000000000000090
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[검색어] van der Knaap, M.S.
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