Zobrazeno 1 - 10
of 442
pro vyhledávání: '"de Meirleir, Linda"'
Autor:
Groeneweg, Stefan, Peeters, Robin P, Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F M, McGowan, Anne, Lyons, Greta, Aarsen, Femke K, Barca, Diana, van Beynum, Ingrid M, van der Knoop, Marieke M, Jansen, Jurgen, Manshande, Martien *, Lunsing, Roelineke J, Nowak, Stan, den Uil, Corstiaan A, Zillikens, M Carola, Visser, Frank E, Vrijmoeth, Paul, de Wit, Marie Claire Y, Wolf, Nicole I, Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B, Medici, Marco, Bertini, Enrico S, Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda *, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Oliver Petit, Isabelle, Polak, Michel, Chatterjee, Krishna, Visser, Theo J *, Visser, W Edward *
Publikováno v:
In The Lancet Diabetes & Endocrinology September 2019 7(9):695-706
Autor:
Stouffs, Katrien, Moortgat, Stéphanie, Vanderhasselt, Tim, Vandervore, Laura, Dica, Alice, Mathot, Mikaël, Keymolen, Kathelijn, Seneca, Sara, Gheldof, Alexander, De Meirleir, Linda, Jansen, Anna C.
Publikováno v:
In European Journal of Medical Genetics December 2018 61(12):733-737
Autor:
Lagae, Lieven, Verhelst, Helène, Ceulemans, Berten, De Meirleir, Linda, Nassogne, Marie-Cécile, De Borchgrave, Valerie, D’Hooghe, Marc, Foulon, Martine, Van Bogaert, Patrick
Publikováno v:
In Seizure: European Journal of Epilepsy 2010 19(3):159-164
Autor:
Gerlo, Erik, Van Coster, Rudy, Lissens, Willy, Winckelmans, Gerda, De Meirleir, Linda, Wevers, Ron
Publikováno v:
In Analytica Chimica Acta 2006 571(2):191-199
Autor:
Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leao, Vara, Roshni, Mew, Nicholas Ah., Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Koelker, Stefan, Burgard, Peter, Bloxam, Sondra, Brody, Linnea, Caspi, Liora, Elsbecker, Sara, Fierro, Luca, Lynn, Audrey, Mullins, Mary, Mutze, Ulrike, Papaleo, Cassandra, Payan, Irma, Simpson, Kara, Singer, Rebecca, Wallis, Kimberly, Alber, Fabienne Dietrich, Babikian, Talin, Bender, Heidi, Boys, Christopher, Breiger, David, Buerger, Corinna, Caudle, Susan E., Nguyen-Driver, Mina, Kerr, Elizabeth, Mamak, Eva, Sanz, Jacqueline H., Tangen, Rachel, Wilkening, Greta, Cederbaum, Stephen, Feigenbaum, Annette, Kerr, Douglas S., Lichter-Konecki, Uta, Seashore, Margretta R., Berry, Susan A., Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Lee, Brendan, Le Mons, Cynthia, Merritt, J. Lawrence, II, Nagamani, Sandesh C. S., Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James, Wong, Derek, Yudkoff, Marc, Arnoux, Jean-Baptiste, Baric, Ivo, Bosch, Annet M., Chabrol, Brigitte, Chakrapani, Anupam, Cortes-Saladefont, Elisenda, Couce, Maria L., Eyskens, François, de Laet, Corine, de Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grunewald, Stephanie, Haberle, Johannes, Hwu, Wuh-Liang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M., Martinelli, Diego, Murphy, Elaine, Muehlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, Sykut-Cegielska, Jolanta, Walter, John H., Williams, Monique, Zeman, Jiri
Publikováno v:
Journal of inherited metabolic disease, vol 42, iss 1
Journal of Inherited Metabolic Disease, 42(1), 93-106. Springer Netherlands
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, ' Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106 . https://doi.org/10.1002/jimd.12031
Journal of inherited metabolic disease, 42(1), 93-106. Springer Netherlands
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 42(1), 93-106. Springer Netherlands
Posset, R, Garbade, S F, Boy, N, Burlina, A B, Dionisi-Vici, C, Dobbelaere, D, Garcia-Cazorla, A, de Lonlay, P, Teles, E L, Vara, R, Mew, N A, Batshaw, M L, Baumgartner, M R, McCandless, S E, Seminara, J, Summar, M, Hoffmann, G F, Kölker, S, Burgard, P, Additional individual contributors of the UCDC and the E-IMD consortium & Zeman, J 2019, ' Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 93-106 . https://doi.org/10.1002/jimd.12031
Journal of inherited metabolic disease, 42(1), 93-106. Springer Netherlands
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, Vol. 42, no. 1, p. 93-106 (2019)
Journal of inherited metabolic disease
ollaborators: Bloxam S, Brody L, Caspi L, Elsbecker S, Fierro L, Lynn A, Mullins M, Mütze U, Papaleo C, Payan I, Seminara J, Simpson K, Singer R, Wallis K, Alber FD, Babikian T, Bender H, Boys C, Breiger D, Buerger C, Caudle SE, NguyenDriver M, Kerr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d93d4609396aef463719272a84cbaf6b
https://escholarship.org/uc/item/5h73x4jb
https://escholarship.org/uc/item/5h73x4jb
Autor:
Lemke, Johannes R., Geider, Kirsten, Helbig, Katherine L., Heyne, Henrike O., Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S., Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A., Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L., Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J., Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J., Doherty, Emily S., Bijlsma, Emilia K., Ruivenkamp, Claudia A., Hoffer, Mariette J.V., Goldstein, Amy, Rajan, Deepa S., Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P.C., Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G.F., Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L., Laube, Bodo, Syrbe, Steffen
Publikováno v:
Neurology
Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. Methods: We collected molecular and clinical data from several diagn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f1c618fe217f07d3930a97a5237068d
http://europepmc.org/articles/PMC4898312
http://europepmc.org/articles/PMC4898312
Autor:
Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rötig, Agnes, Ardissone, Anna, Lombès, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Wenhong, Ding, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joél, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Häberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9b17250ff7414472fb7071add3ed9e86
https://mediatum.ub.tum.de/doc/1510482/document.pdf
https://mediatum.ub.tum.de/doc/1510482/document.pdf
Autor:
Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 72 (2011)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological change
Externí odkaz:
https://doaj.org/article/d63f77a4e8594226848dbc59023465a9
Autor:
Boujraf, Saı̈d *, Luypaert, Robert, Shabana, Wael, De Meirleir, Linda, Sourbron, Steven, Osteaux, Michel
Publikováno v:
In Magnetic Resonance Imaging May 2002 20(4):327-336
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.