학술논문
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'학술논문'
에서 검색결과 148건 | 목록
1~20
Academic Journal
Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsmaa, Emilia K.; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M.; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A.; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H.; Sherr, Elliott H.; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M.; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J. A.; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L.; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette
European Journal of Human Genetics. 33(8):989-996
Academic Journal
Esther M.G. Bormans; Janneke H.M. Schuurs-Hoeijmakers; Petra van Setten; Linda A.J. Hendricks; Meggie M.C.M. Drissen; Martin Gotthardt; Hedi L. Claahsen-Van der Grinten; Nicoline Hoogerbrugge; Jolanda H. Schieving
JCRPE, Vol 17, Iss 1, Pp 46-57 (2025)
Academic Journal
van Teunenbroek, Kim C.; Mulder, Renée L.; Ahout, Inge M. L.; Bindels-de Heus, Karen G. C. B.; Delsman-van Gelder, Catharina M.; Galimont-Collen, Annemie F. S.; de Groot, Marinka A. R.; Heitink-Polle, Katja M. J.; Looijestijn, Jeffry; Mensink, Maarten O.; Mulder, Selma; Schieving, Jolanda H.; Schouten-van Meeteren, Antoinette Y. N.; Verheijden, Johannes M. A.; Rippen, Hester; Borggreve, Brigitt C. M.; Kremer, Leontien C. M.; Verhagen, A. A. Eduard; Michiels, Erna M. C.
BMC Palliative Care. 23(1)
Academic Journal
Drissen, Meggie M.C.M. ; Vos, Janet R. ; Collado Camps, Estel ; Schuurs-Hoeijmakers, Janneke H.M. ; Schieving, Jolanda H. ; Hoogerbrugge, Nicoline
In European Journal of Medical Genetics August 2024 70
Academic Journal
Krielen, Pepijn; Meeuwsen, Malon; Tan, Edward C. T. H.; Schieving, Jolanda H.; Ruijs, Annelies J. E. M.; Scherpbier, Nynke D.
BMC Medical Education. 23(1)
Academic Journal
Gaby Schobers; Jolanda H. Schieving; Helger G. Yntema; Maartje Pennings; Rolph Pfundt; Ronny Derks; Tom Hofste; Ilse de Wijs; Nienke Wieskamp; Simone van den Heuvel; Jordi Corominas Galbany; Christian Gilissen; Marcel Nelen; Han G. Brunner; Tjitske Kleefstra; Erik-Jan Kamsteeg; Michèl A. A. P. Willemsen; Lisenka E. L. M. Vissers
Genome Medicine, Vol 14, Iss 1, Pp 1-10 (2022)
Academic Journal
Drissen, Meggie M.C.M. ; Schieving, Jolanda H. ; Schuurs-Hoeijmakers, Janneke H.M. ; Vos, Janet R. ; Hoogerbrugge, Nicoline
In European Journal of Medical Genetics December 2021 64(12)
Academic Journal
Charlotte Gehin; Museer A. Lone; Winston Lee; Laura Capolupo; Sylvia Ho; Adekemi M. Adeyemi; Erica H. Gerkes; Alexander P.A. Stegmann; Estrella López-Martín; Eva Bermejo-Sánchez; Beatriz Martínez-Delgado; Christiane Zweier; Cornelia Kraus; Bernt Popp; Vincent Strehlow; Daniel Gräfe; Ina Knerr; Eppie R. Jones; Stefano Zamuner; Luciano A. Abriata; Vidya Kunnathully; Brandon E. Moeller; Anthony Vocat; Samuel Rommelaere; Jean-Philippe Bocquete; Evelyne Ruchti; Greta Limoni; Marine Van Campenhoudt; Samuel Bourgeat; Petra Henklein; Christian Gilissen; Bregje W. van Bon; Rolph Pfundt; Marjolein H. Willemsen; Jolanda H. Schieving; Emanuela Leonardi; Fiorenza Soli; Alessandra Murgia; Hui Guo; Qiumeng Zhang; Kun Xia; Christina R. Fagerberg; Christoph P. Beier; Martin J. Larsen; Irene Valenzuela; Paula Fernández-Álvarez; Shiyi Xiong; Robert Śmigiel; Vanesa López-González; Lluís Armengol; Manuela Morleo; Angelo Selicorni; Annalaura Torella; Moira Blyth; Nicola S. Cooper; Valerie Wilson; Renske Oegema; Yvan Herenger; Aurore Garde; Ange-Line Bruel; Frederic Tran Mau-Them; Alexis B.R. Maddocks; Jennifer M. Bain; Musadiq A. Bhat; Gregory Costain; Peter Kannu; Ashish Marwaha; Neena L. Champaigne; Michael J. Friez; Ellen B. Richardson; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Yask Gupta; Tze Y. Lim; Simone Sanna-Cherchi; Bruno Lemaitre; Toshiyuki Yamaji; Kentaro Hanada; John E. Burke; Ana Marjia Jakšić; Brian D. McCabe; Paolo De Los Rios; Thorsten Hornemann; Giovanni D’Angelo; Vincenzo A. Gennarino
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Academic Journal
van Teunenbroek, Kim C.; Kremer, Leontien C. M.; Verhagen, A. A. Eduard; Verheijden, Johannes M. A.; Rippen, Hester; Borggreve, Brigitt C. M.; Michiels, Erna M. C.; Mulder, Renée L.; Ahout, Inge M. L.; Alsem, Mattijs W.; van den Bergh, Esther M. M.; Berkhout, Loes; Bindels-de Heus, Karin G. C. B.; Brinkhorst, Govert; Colenbrander, Arno; Corel, Linda; Delsman-van Gelder, Catharina M.; van Dijk, Jennifer; Fahner, Jurrianne C.; Falkenburg, Jeannette L.; Favié, Laurent; Galimont-Collen, Annemie F. S.; Geleijns, Karin; Geurtzen, Rosa; Gijsbertsen-Kool, Annelies; Gischler, Saskia J.; de Groot, Marinka A. R.; Haag, Anne; Hart-Kerkhoffs, Lisette 't; Heinen, Hanneke; Heitink-Polle, Katja M. J.; Honig-Mazer, Petra; Huizinga, Carolien S. M.; Joosen, Cindy; Juffermans, Carla C. M.; Kars, Marijke C.; Kisman, Karolien; Knoester, Hennie; Kochen, Eline M.; de Koning, Barbara; de Leeuw, Tom; Looijestijn, Jeffry; Mekelenkamp, Hilda; Mensink, Maarten O.; Mulder, Selma; Nieuweboer, Mariska P.; Oude Ophuis, Sebastianus B. J.; Pasmans, Suzanne G. M. A.; van de Putte, Elise M.; Räkers, Emmy; Rietveld, Liesbeth; Rigter, Irma M.; Rohrich, Christel D.; van Roosmalen, Tanja; Ruijgrok, Elisabeth J.; Schieving, Jolanda H.; van der Schoot, Kim; Schouten-van Meeteren, Antoinette Y. N.; Siegers-Bennink, Ellen; Sjouwke, Henriette; Snijders-Groenendijk, Tanneke; van Stiphout, Mara; van de Vathorst, Suzanne; van Vlimmeren, Leo; de Vos, Mirjam A.; van Wageningen, Nellie; Weenink, Anne; de Weerd, Willemien; Zaal-Schuller, Ilse H.
BMC Palliative Care. December 1, 2023, Vol. 22 Issue 1
Academic Journal
Bormans, Esther M. G.; Schuurs-Hoeijmakers, Janneke H. M.; van Setten, Petra; Hendricks, Linda A. J.; Drissen, Meggie M. C. M.; Gotthardt, Martin; der Grinten, Hedi L. Claahsen-Van; Hoogerbrugge, Nicoline; Schieving, Jolanda H.
Academic Journal
Reynhout, Sara ; Jansen, Sandra ; Haesen, Dorien ; van Belle, Siska ; de Munnik, Sonja A. ; Bongers, Ernie M.H.F. ; Schieving, Jolanda H. ; Marcelis, Carlo ; Amiel, Jeanne ; Rio, Marlène ; Mclaughlin, Heather ; Ladda, Roger ; Sell, Susan ; Kriek, Marjolein ; Peeters-Scholte, Cacha M.P.C.D. ; Terhal, Paulien A. ; van Gassen, Koen L. ; Verbeek, Nienke ; Henry, Sonja ; Scott Schwoerer, Jessica ; Malik, Saleem ; Revencu, Nicole ; Ferreira, Carlos R. ; Macnamara, Ellen ; Braakman, Hilde M.H. ; Brimble, Elise ; Ruzhnikov, Maura R.Z. ; Wagner, Matias ; Harrer, Philip ; Wieczorek, Dagmar ; Kuechler, Alma ; Tziperman, Barak ; Barel, Ortal ; de Vries, Bert B.A. ; Gordon, Christopher T. ; Janssens, Veerle ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 3 January 2019 104(1):139-156
Academic Journal
Lessel, Davor ; Schob, Claudia ; Küry, Sébastien ; Reijnders, Margot R.F. ; Harel, Tamar ; Eldomery, Mohammad K. ; Coban-Akdemir, Zeynep ; Denecke, Jonas ; Edvardson, Shimon ; Colin, Estelle ; Stegmann, Alexander P.A. ; Gerkes, Erica H. ; Tessarech, Marine ; Bonneau, Dominique ; Barth, Magalie ; Besnard, Thomas ; Cogné, Benjamin ; Revah-Politi, Anya ; Strom, Tim M. ; Rosenfeld, Jill A. ; Yang, Yaping ; Posey, Jennifer E. ; Immken, LaDonna ; Oundjian, Nelly ; Helbig, Katherine L. ; Meeks, Naomi ; Zegar, Kelsey ; Morton, Jenny ; Schieving, Jolanda H. ; Claasen, Ana ; Huentelman, Matthew ; Narayanan, Vinodh ; Ramsey, Keri ; Brunner, Han G. ; Elpeleg, Orly ; Mercier, Sandra ; Bézieau, Stéphane ; Kubisch, Christian ; Kleefstra, Tjitske ; Kindler, Stefan ; Lupski, James R. ; Kreienkamp, Hans-Jürgen
In The American Journal of Human Genetics 2 November 2017 101(5):716-724
Academic Journal
Kevelam, Sietske H.; Taube, Jennifer R.; van Spaendonk, Rosalina M. L.; Bertini, Enrico; Sperle, Karen; Tarnopolsky, Mark; Tonduti, Davide; Valente, Enza Maria; Travaglini, Lorena; Sistermans, Erik A.; Bernard, Geneviève; Catsman-Berrevoets, Coriene E.; van Karnebeek, Clara D. M.; Østergaard, John R.; Friederich, Richard L.; Fawzi Elsaid, Mahmoud; Schieving, Jolanda H.; Tarailo-Graovac, Maja; Orcesi, Simona; Steenweg, Marjan E.; van Berkel, Carola G. M.; Waisfisz, Quinten; Abbink, Truus E. M.; van der Knaap, Marjo S.; Hobson, Grace M.; Wolf, Nicole I.; Ostergaard, J.R.
Ann Clin Transl Neurol
Kevelam, SH , Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Ostergaard, J R, Friederich, R L, Elsaid, M F, Schieving , J H , Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, G E M, Knaap, M, Hobson, G M & Wolf, N I 2015, 'Altered PLP1 splicing causes hypomyelination of early myelinating structures', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 648-661. https://doi.org/10.1002/acn3.203
Kevelam, SH , Taube, J R, van Spaendonk, R M L, Bertini, E, Sperle, K, Tarnopolsky, M, Tonduti, D, Valente, E M, Travaglini, L, Sistermans, E A, Bernard, G, Catsman-Berrevoets, C E, van Karnebeek, C D M, Østergaard, J R, Friederich, R L, Fawzi Elsaid, M, Schieving , J H , Tarailo-Graovac, M, Orcesi, S, Steenweg, M E, van Berkel, C G M, Waisfisz, Q, Abbink, T E M, van der Knaap, M S, Hobson, G M & Wolf, N I 2015, 'Altered PLP1 splicing causes hypomyelination of early myelinating structures', Annals of Clinical and Translational Neurology, vol. 2, no. 6, pp. 648-61. https://doi.org/10.1002/acn3.203
Annals of Clinical and Translational Neurology
Kevelam, S
Kevelam, S
Annals of Clinical and Translational Neurology
Academic Journal
Pennings, Maartje; Schouten, Meyke I.; van Gaalen, Judith; Meijer, Rowdy P. P.; de Bot, Susanne T.; Kriek, Marjolein; Saris, Christiaan G. J.; van den Berg, Leonard H.; van Es, Michael A.; Zuidgeest, Dick M. H.; Elting, Mariet W.; van de Kamp, Jiddeke M.; van Spaendonck-Zwarts, Karin Y.; Die-Smulders, Christine de; Brilstra, Eva H.; Verschuuren, Corien C.; de Vries, Bert B. A.; Bruijn, Jacques; Sofou, Kalliopi; Duijkers, Floor A.; Jaeger, B.; Schieving, Jolanda H.; van de Warrenburg, Bart P.; Kamsteeg, Erik-Jan
European Journal of Human Genetics. 28(1):40-49
Academic Journal
Schei-Andersen, Ane J.; Witjes, Vera M.; Vos, Janet R.; Mensenkamp, Arjen R.; van Altena, Anne; Schieving, Jolanda; Simons, Michiel; Schuurs-Hoeijmakers, Janneke H. M.; Hoogerbrugge, Nicoline
Familial Cancer. 24(2)
Academic Journal
Vissers, Lisenka E.L.M. ; van Nimwegen, Kirsten J.M. ; Schieving, Jolanda H. ; Kamsteeg, Erik-Jan ; Kleefstra, Tjitske ; Yntema, Helger G. ; Pfundt, Rolph ; van der Wilt, Gert Jan ; Krabbenborg, Lotte ; Brunner, Han G. ; van der Burg, Simone ; Grutters, Janneke ; Veltman, Joris A. ; Willemsen, Michèl A.A.P.
In Genetics in Medicine September 2017 19(9):1055-1063
van Teunenbroek, Kim C.; Mulder, Renée L.; Ahout, Inge M. L.; Bindels-de Heus, Karen G. C. B.; Delsman-van Gelder, Catharina M.; Galimont-Collen, Annemie F. S.; de Groot, Marinka A. R.; Heitink-Polle, Katja M. J.; Looijestijn, Jeffry; Mensink, Maarten O.; Mulder, Selma; Schieving, Jolanda H.; Schouten-van Meeteren, Antoinette Y. N.; Verheijden, Johannes M. A.; Rippen, Hester; Borggreve, Brigitt C. M.; Kremer, Leontien C. M.; Verhagen, A. A. Eduard; Michiels, Erna M. C.
Academic Journal
Janssens, Geert O. ; Jansen, Marc H. ; Lauwers, Selmer J. ; Nowak, Peter J. ; Oldenburger, Foppe R. ; Bouffet, Eric ; Saran, Frank ; Kamphuis-van Ulzen, Karin ; van Lindert, Erik J. ; Schieving, Jolanda H. ; Boterberg, Tom ; Kaspers, Gertjan J. ; Span, Paul N. ; Kaanders, Johannes H. ; Gidding, Corrie E. ; Hargrave, Darren
In International Journal of Radiation Oncology, Biology, Physics 1 February 2013 85(2):315-320
Academic Journal
Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H. ; Kluijtmans, Leo A.J. ; Huigen, Marleen C.D.G. ; Hoegen, Brechtje ; de Boer, Lonneke ; de Vries, Maaike C. ; van Bon, Bregje W. ; Leenders, Erika ; Cornelissen, Elisabeth A.M. ; Haaxma, Charlotte A. ; Schieving, Jolanda H. ; Rubio-Gozalbo, M. Estela ; Körver-Keularts, Irene M.L.W. ; Marten, Lara M. ; Diegmann, Susann ; Mourmans, Jeroen ; Rennings, Alexander J.M. ; van Karnebeek, Clara D.M. ; Rodenburg, Richard J. ; Coene, Karlien L.M.
In Genetics in Medicine January 2023 25(1):125-134
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[검색어] Schieving, Jolanda H.
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