학술논문
'학술논문'
에서 검색결과 102건 | 목록
20~30
Academic Journal
Simons, Cas; Dyment, David; Bent, Stephen J; Crawford, Joanna; D’Hooghe, Marc; Kohlschütter, Alfried; Venkateswaran, Sunita; Helman, Guy; Poll-The, Bwee-Tien; Makowski, Christine C; Ito, Yoko; Kernohan, Kristin; Hartley, Taila; Waisfisz, Quinten; Taft, Ryan J; van der Knaap, Marjo S; Wolf, Nicole I
Brain. Dec 01, 2017 140(12):3105-3111
Academic Journal
Peeters-Scholte, Cacha M P C D; Adama van Scheltema, Phebe N; Klumper, Frans J C M; Everwijn, Sheila M P; Koopmans, Marije; Hoffer, Mariette J V; Koopmann, Tamara T; Ruivenkamp, Claudia A L; Steggerda, Sylke J; van der Knaap, Marjo S; Santen, Gijs W E
Brain. Nov 01, 2017 140(11):e66-e66
Periodical
Jenkinson, Emma M; Rodero, Mathieu P; Kasher, Paul R; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C; Rose, Yoann; Kershaw, Christopher J; Urquhart, Jill E; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Baerlocher, Gabriela M; Haubitz, Monika; Aubert, Geraldine; Barañano, Kristin W; Barnicoat, Angela J; Battini, Roberta; Berger, Andrea; Blair, Edward M; Brunstrom-Hernandez, Janice E; Buckard, Johannes A; Cassiman, David M; Caumes, Rosaline; Cordelli, Duccio M; De Waele, Liesbeth M; Fay, Alexander J; Ferreira, Patrick; Fletcher, Nicholas A; Fryer, Alan E; Goel, Himanshu; Hemingway, Cheryl A; Henneke, Marco; Hughes, Imelda; Jefferson, Rosalind J; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre G; Lourenço, Charles M; Malpas, Timothy J; Mehta, Sarju G; Metz, Imke; Naidu, Sakkubai; Õunap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H; Sinnathuray, Kanaga R; Soh, Calvin; Stewart, Helen S; Stone, John; Van Esch, Hilde; Van Mol, Christine E G; Vanderver, Adeline; Wakeling, Emma L; Whitney, Andrea; Pavitt, Graham D; Griffiths-Jones, Sam; Rice, Gillian I; Revy, Patrick; van der Knaap, Marjo S; Livingston, John H; O'Keefe, Raymond T; Crow, Yanick J
Nature Genetics; October 2016, Vol. 48 Issue: 10 p1185-1192, 8p
Academic Journal
van Rappard, Diane F; de Vries, Annelou L C; Oostrom, Kim J; Boelens, Jaap Jan; Hollak, Carla E M; van der Knaap, Marjo S; Wolf, Nicole I
Academic Journal
Wolf, Nicole I; Toro, Camilo; Kister, Ilya; Latif, Kartikasalwah Abd; Leventer, Richard; Pizzino, Amy; Simons, Cas; Abbink, Truus E M; Taft, Ryan J; van der Knaap, Marjo S; Vanderver, Adeline
Neurology; 1/20/2015, Vol. 84 Issue 3, p226-230, 5p
Academic Journal
Wolf, Nicole I; Vanderver, Adeline; van Spaendonk, Rosalina M L; Schiffmann, Raphael; Brais, Bernard; Bugiani, Marianna; Sistermans, Erik; Catsman-Berrevoets, Coriene; Kros, Johan M; Pinto, Pedro Soares; Pohl, Daniela; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Fribourg, Sébastien; Demos, Michelle; Pizzino, Amy; Naidu, Sakkubai; Guerrero, Kether; van der Knaap, Marjo S
Neurology; 11/18/2014, Vol. 83 Issue 21, p1898-1905, 8p
Academic Journal
Nota, Benjamin; Hamilton, Eline M; Sie, Daoud; Ozturk, Senay; van Dooren, Silvy J M; Ojeda, Matilde R Fernandez; Jakobs, Cornelis; Christensen, Ernst; Kirk, Edwin P; Sykut-Cegielska, Jolanta; Lund, Allan M; van der Knaap, Marjo S; Salomons, Gajja S
Journal of Medical Genetics. Nov 01, 2013 50(11):754-759
Academic Journal
Hamilton, Eline M; Polder, Emiel; Vanderver, Adeline; Naidu, Sakkubai; Schiffmann, Raphael; Fisher, Kate; Raguz, Ana Boban; Blumkin, Luba; van Berkel, Carola G M; Waisfisz, Quinten; Simons, Cas; Taft, Ryan J; Abbink, Truus E M; Wolf, Nicole I; van der Knaap, Marjo S; H-ABC Research Group (CORPORATE AUTHOR); Raguž, Ana Boban
Academic Journal
Developmental Medicine & Child Neurology. Jan 01, 2013 55(1):46-57
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Academic Journal
Kevelam, Sietske H; Bugiani, Marianna; Salomons, Gajja S; Feigenbaum, Annette; Blaser, Susan; Prasad, Chitra; Häberle, Johannes; Baric, Ivo; Bakker, Ingrid M C; Postma, Nienke L; Kanhai, Warsha A; Wolf, Nicole I; Abbink, Truus E M; Waisfisz, Quinten; Heutink, Peter; van der Knaap, Marjo S
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[AR] van der Knaap, Marjo S
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