학술논문
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'학술논문'
에서 검색결과 95건 | 목록
1~20
Academic Journal
Kuypers, Allysa M.; Bouva, Marelle J.; Loeber, J. Gerard; Boelen, Anita; Dekkers, Eugenie; Petritis, Konstantinos; Pickens, C. Austin; van Spronsen, Francjan J.; Heiner-Fokkema, M. Rebecca
International Journal of Neonatal Screening. September, 2025, Vol. 11 Issue 3
Academic Journal
Schwantje, Marit; Maase, Rose E.; Dekkers, Eugenie; Ferdinandusse, Sacha; Vaz, Frederic M.; Horster, Friederieke; Mutze, Ulrike; Grunert, Sarah C.; Visser, Gepke; van der Velden, Monique G. M. De Sain; Fuchs, Sabine A.
Academic Journal
Kuypers, Allysa M.; Bouva, Marelle J.; Loeber, J. Gerard; Boelen, Anita; Dekkers, Eugenie; Petritis, Konstantinos; Pickens, C. Austin; van Spronsen, Francjan J.; Heiner-Fokkema, M. Rebecca
International Journal of Neonatal Screening. December, 2024, Vol. 10 Issue 4
Academic Journal
Marit Schwantje; Sabine A. Fuchs; Lonneke de Boer; Annet M. Bosch; Inge Cuppen; Eugenie Dekkers; Terry G. J. Derks; Sacha Ferdinandusse; Lodewijk Ijlst; Riekelt H. Houtkooper; Rose Maase; W. Ludo van der Pol; Maaike C. de Vries; Rendelien K. Verschoof‐Puite; Ronald J. A. Wanders; Monique Williams; Frits Wijburg; Gepke Visser
J Inherit Metab Dis
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I,Dekkers , E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, 'Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818. https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I,
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
Academic Journal
Olthof, Anouk; Bouva, Marelle J.; Claahsen-van der Grinten, Hedi L.; Westra, Dineke; Dekkers, Eugènie; Heijboer, Annemieke C.; Hannema, Sabine E.; Boelen, Anita
Archives of Disease in Childhood; Jan2026, Vol. 111 Issue 1, p62-68, 7p
Academic Journal
Věra Franková; Riona O. Driscoll; Marleen E. Jansen; J. Gerard Loeber; Viktor Kožich; James Bonham; Patricia Borde; Ian Brincat; David Cheillan; Eugenie Dekkers; Ralph Fingerhut; Iva Bilandžija Kuš; Panagiotis Girginoudis; Urh Groselj; David Hougaard; Mária Knapková; Giancarlo la Marca; Ieva Malniece; Michaela Iuliana Nanu; Uta Nennstiel; Nataliia Olkhovych; Mariusz Oltarzewski; Rolf D. Pettersen; Gabor Racz; Karit Reinson; Damilya Salimbayeva; Jurgita Songailiene; Laura Vilarinho; Marios Vogazianos; Rolf H. Zetterström; Maximilian Zeyda; Zandra C. Deans; Christi J. van Asperen; Mick J. Henderson; David Barton; Elisabeth M. C. Dequeker; Isabel Marques Carreira; Thomy de Ravel; Katrina Rack; Katrin Õunap
Members of the European Society of Human Genetics (ESHG)-EuroGentest Quality Sub-Committee 2021, 'Regulatory landscape of providing information on newborn screening to parents across Europe', European Journal of Human Genetics, vol. 29, no. 1, pp. 67-78. https://doi.org/10.1038/s41431-020-00716-6
Academic Journal
Jeannette C. Bleeker; Irene L. Kok; Sacha Ferdinandusse; W. Ludo van der Pol; Inge Cuppen; Annet M. Bosch; Mirjam Langeveld; Terry G. J. Derks; Monique Williams; Maaike de Vries; Margot F. Mulder; Estela R. Gozalbo; Monique G. M. de Sain‐van der Velden; Alexander J. Rennings; Peter J. C. I. Schielen; Eugenie Dekkers; Riekelt H. Houtkooper; Hans R. Waterham; Mia L. Pras‐Raves; Ronald J. A. Wanders; Peter M. van Hasselt; Marja Schoenmakers; Frits A. Wijburg; Gepke Visser
Bleeker, J C, Kok, I L, Ferdinandusse, S, van der Pol, W L, Cuppen, I, Bosch, A M, Langeveld, M, Derks, T G J, Williams, M, de Vries, M, Mulder, M F, Gozalbo, E R, de Sain-van der Velden, M G M, Rennings, A J, Schielen, P J C I, Dekkers , E, Houtkooper, R H, Waterham, H R, Pras-Raves, M L, Wanders, R J A, van Hasselt, P M, Schoenmakers, M, Wijburg, F A & Visser, G 2019, 'Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes', Journal of Inherited Metabolic Disease, vol. 42, no. 3, pp. 414-423. https://doi.org/10.1002/jimd.12075
Journal of Inherited Metabolic Disease, 42, 3, pp. 414-423
Journal of Inherited Metabolic Disease, 42, 3, pp. 414-423
Academic Journal
International Journal of Neonatal Screening. February, 2023, Vol. 9 Issue 1
Academic Journal
van den Heuvel, Lieke M.; van der Pal, Sylvia M.; Verschoof-Puite, Rendelien K.; Klapwijk, Jasmijn E.; Elsinghorst, Ellen; Dekkers, Eugènie; van der Ploeg, Catharina P. B.; Henneman, Lidewij
International Journal of Neonatal Screening. March, 2024, Vol. 10 Issue 1
Academic Journal
Blom, Maartje; Bredius, Robbert G. M.; Jansen, Marleen E.; Weijman, Gert; Kemper, Evelien A.; Vermont, Clementien L.; Hollink, Iris H. I. M.; Dik, Willem A.; van Montfrans, Joris M.; van Gijn, Mariëlle E.; Henriet, Stefanie S.; van Aerde, Koen J.; Koole, Wouter; Lankester, Arjan C.; Dekkers, Eugènie H. B. M.; Schielen, Peter C. J. I.; de Vries, Martine C.; Henneman, Lidewij; van der Burg, Mirjam
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 41(1):99-108
Academic Journal
Pringle, Kirsty G. ; de Meaultsart, Celine Corbisier ; Sykes, Shane D. ; Weatherall, Loretta J. ; Keogh, Lyniece ; Clausen, Don C. ; Dekker, Gus A. ; Smith, Roger ; Roberts, Claire T. ; Rae, Kym M. ; Lumbers, Eugenie R.
In Pregnancy Hypertension: An International Journal of Women's Cardiovascular Health April 2018 12:110-117
Academic Journal
Alexander von Humboldt Institute for Internet and Society (HIIG), Berlin, Internet Policy Review: Journal on Internet Regulation. 13(1):1-32
Academic Journal
Jaka Sikonja; Urh Groselj; Maurizio Scarpa; Giancarlo la Marca; David Cheillan; Stefan Kölker; Rolf H. Zetterström; Viktor Kožich; Yann Le Cam; Gulcin Gumus; Valentina Bottarelli; Mirjam van der Burg; Eugenie Dekkers; Tadej Battelino; Johan Prevot; Peter C. J. I. Schielen; James R. Bonham
International Journal of Neonatal Screening, Vol 8, Iss 2, p 31 (2022)
Academic Journal
J. Gerard Loeber; Dimitris Platis; Rolf H. Zetterström; Shlomo Almashanu; François Boemer; James R. Bonham; Patricia Borde; Ian Brincat; David Cheillan; Eugenie Dekkers; Dobry Dimitrov; Ralph Fingerhut; Leifur Franzson; Urh Groselj; David Hougaard; Maria Knapkova; Mirjana Kocova; Vjosa Kotori; Viktor Kozich; Anastasiia Kremezna; Riikka Kurkijärvi; Giancarlo La Marca; Ruth Mikelsaar; Tatjana Milenkovic; Vyacheslav Mitkin; Florentina Moldovanu; Uta Ceglarek; Loretta O'Grady; Mariusz Oltarzewski; Rolf D. Pettersen; Danijela Ramadza; Damilya Salimbayeva; Mira Samardzic; Markhabo Shamsiddinova; Jurgita Songailiené; Ildiko Szatmari; Nazi Tabatadze; Basak Tezel; Alma Toromanovic; Irina Tovmasyan; Natalia Usurelu; Parsla Vevere; Laura Vilarinho; Marios Vogazianos; Raquel Yahyaoui; Maximilian Zeyda; Peter C.J.I. Schielen
International Journal of Neonatal Screening, Vol 7, Iss 1, p 15 (2021)
Academic Journal
Rinse W. Barendsen; Inge M. E. Dijkstra; Wouter F. Visser; Mariëlle Alders; Jet Bliek; Anita Boelen; Marelle J. Bouva; Saskia N. van der Crabben; Ellen Elsinghorst; Ankie G. M. van Gorp; Annemieke C. Heijboer; Mandy Jansen; Yorrick R. J. Jaspers; Henk van Lenthe; Ingrid Metgod; Christiaan F. Mooij; Elise H. C. van der Sluijs; A. S. Paul van Trotsenburg; Rendelien K. Verschoof-Puite; Frédéric M. Vaz; Hans R. Waterham; Frits A. Wijburg; Marc Engelen; Eugènie Dekkers; Stephan Kemp
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Academic Journal
Rinse W. Barendsen; Inge M. E. Dijkstra; Wouter F. Visser; Mariëlle Alders; Jet Bliek; Anita Boelen; Marelle J. Bouva; Saskia N. van der Crabben; Ellen Elsinghorst; Ankie G. M. van Gorp; Annemieke C. Heijboer; Mandy Jansen; Yorrick R. J. Jaspers; Henk van Lenthe; Ingrid Metgod; Christiaan F. Mooij; Elise H. C. van der Sluijs; A. S. Paul van Trotsenburg; Rendelien K. Verschoof-Puite; Frédéric M. Vaz; Hans R. Waterham; Frits A. Wijburg; Marc Engelen; Eugènie Dekkers; Stephan Kemp
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Academic Journal
Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N.; Dekkers, Eugenie; Fuchs, Sabine A.; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J.; Vaz, Frederic Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam
Academic Journal
Jeannette C. Bleeker; Irene L. Kok; Sacha Ferdinandusse; W. Ludo van der Pol; Inge Cuppen; Annet M. Bosch; Mirjam Langeveld; Terry G. J. Derks; Monique Williams; Maaike de Vries; Margot F Mulder; Estela Rubio Gozalbo; Monique G.M. de Sain-van der Velden; Alexander J. Rennings; Peter J.C.I. Schielen; Eugenie Dekkers; Riekelt H. Houtkooper; Hans R. Waterham; Mia L. Pras-Raves; Ronald J.A. Wanders; Peter M. van Hasselt; Marja Schoenmakers; Frits A. Wijburg; Gepke Visser
SSRN Electronic Journal.
Academic Journal
Maartje Blom; Robbert G.M. Bredius; Gert Weijman; Eugènie H.B.M. Dekkers; Evelien A. Kemper; M. Elske van den Akker-van Marle; Catharina P.B. van der Ploeg; Mirjam van der Burg; Peter C.J.I. Schielen
International Journal of Neonatal Screening, Vol 4, Iss 4, p 40 (2018)
Academic Journal
Albersen, Monique; van der Beek, Samantha L.; Dijkstra, Inge M. E.; Alders, Marielle; Barendsen, Rinse W.; Bliek, Jet; Boelen, Anita; Ebberink, Merel S.; Ferdinandusse, Sacha; Goorden, Susan M., I; Heijboer, Annemieke C.; Jansen, Mandy; Jaspers, Yorrick R. J.; Metgod, Ingrid; Salomons, Gajja S.; Vaz, Frederic M.; Verschoof-Puite, Rendelien K.; Visser, Wouter F.; Dekkers, Eugenie; Engelen, Marc; Kemp, Stephan
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[검색어] Eugenie Dekkers
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