Search Results - Wevers, T.
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1
Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,
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2
PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening by Achleitner, Melanie T. (Author) , Jans, Judith J. M. (Author) , Ebner, Laura (Author) , Spenger, Johannes (Author) , Konstantopoulou, Vassiliki (Author) , Feichtinger, René G. (Author) , Brugger, Karin (Author) , Mayr, Doris (Author) , Wevers, Ron A. (Author) , Thiel, Christian (Author) , Wortmann, Saskia B. (Author) , Mayr, Johannes A. (Author) ,
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3
Single-lens mass measurement in the high-magnification microlensing event Gaia19bld located in the Galactic disc by Rybicki, Kris A. (Author) , Wyrzykowski, Lukasz (Author) , Bachelet, Etienne (Author) , Cassan, Arnaud (Author) , Zieliński, Paweł (Author) , Gould, Andrew (Author) , Calchi Novati, Sebastiano (Author) , Yee, J. C. (Author) , Ryu, Yoon-Hyun (Author) , Gromadzki, Mariusz (Author) , Mikołajczyk, Przemysław (Author) , Ihanec, Nada (Author) , Kruszyńska, Katarzyna (Author) , Hambsch, Franz-Josef (Author) , Zoła, Stanisław (Author) , Fossey, Stephen J. (Author) , Awiphan, Supachai (Author) , Nakharutai, Nawapon (Author) , Lewis, F. (Author) , Olivares, Felipe (Author) , Hodgkin, Simon (Author) , Delgado, Arancha (Author) , Breedt, Elmé (Author) , Harrison, Diana L. (Author) , van Leeuwen, M. (Author) , Rixon, Guy (Author) , Wevers, T. (Author) , Yoldas, Abdullah (Author) , Udalski, Andrzej (Author) , Szymański, Michał Krzysztof (Author) , Soszyński, Igor (Author) , Pietrukowicz, Paweł (Author) , Kozłowski, Szymon (Author) , Skowron, Jan (Author) , Poleski, Radosław (Author) , Ulaczyk, Krzysztof (Author) , Mróz, Przemysław (Author) , Iwanek, Patryk (Author) , Wrona, Marcin (Author) , Street, Rachel A. (Author) , Tsapras, Yiannis (Author) , Hundertmark, Markus (Author) , Dominik, Martin (Author) , Beichman, Charles (Author) , Bryden, G. (Author) , Carey, Sean (Author) , Gaudi, B. Scott (Author) , Henderson, Calen (Author) , Shvartzvald, Yossi (Author) , Zang, W. (Author) , Zhu, W. (Author) , Christie, Grant W. (Author) , Green, Jonathan (Author) , Hennerley, Steve (Author) , McCormick, Jennie (Author) , Monard, L. A. G. (Author) , Natusch, Tim (Author) , Pogge, Richard William (Author) , Gezer, Ilknur (Author) , Gurgul, Agnieszka (Author) , Kaczmarek, Zofia (Author) , Konacki, Maciej (Author) , Lam, Marco C. (Author) , Maskoliunas, Marius (Author) , Pakstiene, E. (Author) , Ratajczak, Milena (Author) , Stankeviciute, Algita (Author) , Zdanavicius, Justas (Author) , Ziółkowska, O. (Author) ,
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4
Gaia early data release 3: the celestial reference frame (Gaia-CRF3) by Klioner, Sergei A. (Author) , Lindegren, Lennart (Author) , Mignard, François (Author) , Hernández Muñoz, Jose Luis (Author) , Ramos-Lerate, M. (Author) , Bastian, Ulrich (Author) , Biermann, Michael (Author) , Bombrun, Alex (Author) , Torres, A. de (Author) , Gerlach, Enrico (Author) , Geyer, Robin (Author) , Hilger, Thomas (Author) , Hobbs, David (Author) , Lammers, Uwe L. (Author) , McMillan, Paul J. (Author) , Steidelmüller, H. (Author) , Teyssier, David (Author) , Raiteri, C. M. (Author) , Bartolomé, S. (Author) , Bernet, M. (Author) , Castañeda, J. (Author) , Clotet, M. (Author) , Davidson, M. (Author) , Fabricius, C. (Author) , Torres, N. Garralda (Author) , González-Vidal, J. J. (Author) , Portell, J. (Author) , Rowell, N. (Author) , Torra, F. (Author) , Torra, J. (Author) , Brown, A. G. A. (Author) , Vallenari, A. (Author) , Prusti, T. (Author) , Bruijne, J. H. J. de (Author) , Arenou, F. (Author) , Babusiaux, C. (Author) , Creevey, O. L. (Author) , Ducourant, C. (Author) , Evans, D. W. (Author) , Eyer, L. (Author) , Guerra, R. (Author) , Hutton, A. (Author) , Jordi, C. (Author) , Luri, X. (Author) , Panem, C. (Author) , Pourbaix, D. (Author) , Randich, S. (Author) , Sartoretti, P. (Author) , Soubiran, C. (Author) , Tanga, P. (Author) , Walton, N. A. (Author) , Bailer-Jones, C. a. L. (Author) , Drimmel, R. (Author) , Jansen, F. (Author) , Katz, D. (Author) , Lattanzi, M. G. (Author) , Leeuwen, F. van (Author) , Bakker, J. (Author) , Cacciari, C. (Author) , Angeli, F. De (Author) , Fouesneau, M. (Author) , Frémat, Y. (Author) , Galluccio, L. (Author) , Guerrier, A. (Author) , Heiter, U. (Author) , Masana, E. (Author) , Messineo, R. (Author) , Mowlavi, N. (Author) , Nicolas, C. (Author) , Nienartowicz, K. (Author) , Pailler, F. (Author) , Panuzzo, P. (Author) , Riclet, F. (Author) , Roux, W. (Author) , Seabroke, G. M. (Author) , Sordo, R. (Author) , Thévenin, F. (Author) , Gracia-Abril, Gonzalo (Author) , Altmann, Martin (Author) , Andrae, R. (Author) , Audard, M. (Author) , Bellas-Velidis, I. (Author) , Benson, K. (Author) , Berthier, J. (Author) , Blomme, R. (Author) , Burgess, P. W. (Author) , Busonero, D. (Author) , Busso, G. (Author) , Cánovas, H. (Author) , Carry, B. (Author) , Cellino, A. (Author) , Cheek, N. (Author) , Clementini, G. (Author) , Damerdji, Y. (Author) , Teodoro, P. de (Author) , Campos, M. Nuñez (Author) , Delchambre, L. (Author) , Dell’Oro, A. (Author) , Esquej, P. (Author) , Fernández-Hernández, J. (Author) , Fraile, E. (Author) , Garabato, D. (Author) , García-Lario, P. (Author) , Gosset, E. (Author) , Haigron, R. (Author) , Halbwachs, J.-L. (Author) , Hambly, N. C. (Author) , Harrison, D. L. (Author) , Hestroffer, D. (Author) , Hodgkin, S. T. (Author) , Holl, B. (Author) , Janßen, K. (Author) , Fombelle, G. Jevardat de (Author) , Jordan, S. (Author) , Krone-Martins, A. (Author) , Lanzafame, A. C. (Author) , Löffler, Wolfgang (Author) , Marchal, O. (Author) , Marrese, P. M. (Author) , Moitinho, A. (Author) , Muinonen, K. (Author) , Osborne, P. (Author) , Pancino, E. (Author) , Pauwels, T. (Author) , Recio-Blanco, Alejandra (Author) , Reylé, C. (Author) , Riello, M. (Author) , Rimoldini, L. (Author) , Roegiers, T. (Author) , Rybizki, J. (Author) , Sarro, L. M. (Author) , Siopis, C. (Author) , Smith, M. (Author) , Sozzetti, A. (Author) , Utrilla, E. (Author) , Leeuwen, M. van (Author) , Abbas, U. (Author) , Ábrahám, P. (Author) , Aramburu, A. Abreu (Author) , Aerts, C. (Author) , Aguado, J. J. (Author) , Ajaj, M. (Author) , Aldea-Montero, F. (Author) , Altavilla, G. (Author) , Álvarez, M. A. (Author) , Alves, J. (Author) , Anderson, R. I. (Author) , Varela, E. Anglada (Author) , Antoja, T. (Author) , Baines, D. (Author) , Baker, S. G. (Author) , Balaguer-Núñez, L. (Author) , Balbinot, E. (Author) , Balog, Zoltan (Author) , Barache, C. (Author) , Barbato, D. (Author) , Barros, M. (Author) , Barstow, M. A. (Author) , Bassilana, J.-L. (Author) , Bauchet, N. (Author) , Becciani, U. (Author) , Bellazzini, M. (Author) , Berihuete, A. (Author) , Bertone, S. (Author) , Bianchi, L. (Author) , Binnenfeld, A. (Author) , Blanco-Cuaresma, S. (Author) , Boch, T. (Author) , Bossini, D. (Author) , Bouquillon, S. (Author) , Bragaglia, A. (Author) , Bramante, L. (Author) , Breedt, E. (Author) , Bressan, A. (Author) , Brouillet, N. (Author) , Brugaletta, E. (Author) , Bucciarelli, B. (Author) , Burlacu, A. (Author) , Butkevich, A. G. (Author) , Buzzi, R. (Author) , Caffau, E. (Author) , Cancelliere, R. (Author) , Cantat-Gaudin, T. (Author) , Carballo, R. (Author) , Carlucci, T. (Author) , Carnerero, M. I. (Author) , Carrasco, J. M. (Author) , Casamiquela, L. (Author) , Castellani, M. (Author) , Castro-Ginard, A. (Author) , Chaoul, L. (Author) , Charlot, P. (Author) , Chemin, L. (Author) , Chiaramida, V. (Author) , Chiavassa, A. (Author) , Chornay, N. (Author) , Comoretto, G. (Author) , Contursi, G. (Author) , Cooper, W. J. (Author) , Cornez, T. (Author) , Cowell, S. (Author) , Crifo, F. (Author) , Cropper, M. (Author) , Crosta, M. (Author) , Crowley, C. (Author) , Dafonte, C. (Author) , Dapergolas, A. (Author) , David, P. (Author) , Laverny, P. de (Author) , Luise, F. De (Author) , March, R. De (Author) , Ridder, J. De (Author) , Souza, R. de (Author) , Peloso, Eduardo Fernandez del (Author) , Pozo, E. del (Author) , Delbo, M. (Author) , Delgado, A. (Author) , Delisle, J.-B. (Author) , Demouchy, C. (Author) , Dharmawardena, T. E. (Author) , Diakite, S. (Author) , Diener, C. (Author) , Distefano, E. (Author) , Dolding, C. (Author) , Enke, H. (Author) , Fabre, C. (Author) , Fabrizio, M. (Author) , Faigler, S. (Author) , Fedorets, G. (Author) , Fernique, P. (Author) , Fienga, A. (Author) , Figueras, F. (Author) , Fournier, Y. (Author) , Fouron, C. (Author) , Fragkoudi, F. (Author) , Gai, M. (Author) , Garcia-Gutierrez, A. (Author) , Garcia-Reinaldos, M. (Author) , García-Torres, M. (Author) , Garofalo, A. (Author) , Gavel, A. (Author) , Gavras, P. (Author) , Giacobbe, P. (Author) , Gilmore, G. (Author) , Girona, S. (Author) , Giuffrida, G. (Author) , Gomel, R. (Author) , Gomez, A. (Author) , González-Núñez, J. (Author) , González-Santamaría, I. (Author) , Granvik, M. (Author) , Guillout, P. (Author) , Guiraud, J. (Author) , Gutiérrez-Sánchez, R. (Author) , Guy, L. P. (Author) , Hatzidimitriou, D. (Author) , Hauser, M. (Author) , Haywood, M. (Author) , Helmer, A. (Author) , Helmi, A. (Author) , Sarmiento, M. H. (Author) , Hidalgo, S. L. (Author) , Hładczuk, N. (Author) , Holland, G. (Author) , Huckle, H. E. (Author) , Jardine, K. (Author) , Jasniewicz, G. (Author) , Piccolo, A. Jean-Antoine (Author) , Jiménez-Arranz, Ó (Author) , Juaristi Campillo, Jon (Author) , Julbe, F. (Author) , Karbevska, L. (Author) , Kervella, P. (Author) , Khanna, S. (Author) , Kordopatis, G. (Author) , Korn, A. J. (Author) , Kóspál, Á (Author) , Kostrzewa-Rutkowska, Z. (Author) , Kruszyńska, K. (Author) , Kun, M. (Author) , Laizeau, P. (Author) , Lambert, S. (Author) , Lanza, A. F. (Author) , Lasne, Y. (Author) , Campion, J.-F. Le (Author) , Lebreton, Y. (Author) , Lebzelter, T. (Author) , Leccia, S. (Author) , Leclerc, N. (Author) , Lecoeur-Taibi, I. (Author) , Liao, S. (Author) , Licata, E. L. (Author) , Lindstrøm, H. E. P. (Author) , Lister, T. A. (Author) , Livanou, E. (Author) , Lobel, A. (Author) , Lorca, A. (Author) , Loup, C. (Author) , Pardo, P. Madrero (Author) , Romeo, A. Magdaleno (Author) , Managau, S. (Author) , Mann, R. G. (Author) , Manteiga, M. (Author) , Marchant, J. M. (Author) , Marconi, M. (Author) , Marcos, J. (Author) , Santos, M. M. S. Marcos (Author) , Pina, D. Marín (Author) , Marinoni, S. (Author) , Marocco, F. (Author) , Marshall, D. J. (Author) , Polo, L. Martin (Author) , Martín-Fleitas, J. M. (Author) , Marton, G. (Author) , Mary, N. (Author) , Masip, A. (Author) , Massari, D. (Author) , Mastrobuono-Battisti, A. (Author) , Mazeh, T. (Author) , Messina, S. (Author) , Michalik, D. (Author) , Millar, N. R. (Author) , Mints, A. (Author) , Molina, D. (Author) , Molinaro, R. (Author) , Molnár, L. (Author) , Monari, G. (Author) , Monguió, M. (Author) , Montegriffo, P. (Author) , Montero, A. (Author) , Mor, R. (Author) , Mora, A. (Author) , Morbidelli, R. (Author) , Morel, T. (Author) , Morris, D. (Author) , Muraveva, T. (Author) , Murphy, C. P. (Author) , Musella, I. (Author) , Nagy, Z. (Author) , Noval, L. (Author) , Ocaña, F. (Author) , Ogden, A. (Author) , Ordenovic, C. (Author) , Osinde, J. O. (Author) , Pagani, C. (Author) , Pagano, I. (Author) , Palaversa, L. (Author) , Palicio, P. A. (Author) , Pallas-Quintela, L. (Author) , Panahi, A. (Author) , Payne-Wardenaar, Stefan Erik (Author) , Esteller, X. Peñalosa (Author) , Penttilä, A. (Author) , Pichon, B. (Author) , Piersimoni, A. M. (Author) , Pineau, F.-X. (Author) , Plachy, E. (Author) , Plum, G. (Author) , Poggio, E. (Author) , Prša, A. (Author) , Pulone, L. (Author) , Racero, E. (Author) , Ragaini, S. (Author) , Rainer, M. (Author) , Rambaux, N. (Author) , Ramos, P. (Author) , Fiorentin, P. Re (Author) , Regibo, S. (Author) , Richards, P. J. (Author) , Diaz, C. Rios (Author) , Ripepi, V. (Author) , Riva, A. (Author) , Rix, H.-W. (Author) , Rixon, G. (Author) , Robichon, N. (Author) , Robin, A. C. (Author) , Robin, C. (Author) , Roelens, M. (Author) , Rogues, H. R. O. (Author) , Rohrbasser, L. (Author) , Romero-Gómez, M. (Author) , Royer, F. (Author) , Mieres, D. Ruz (Author) , Rybicki, K. A. (Author) , Sadowski, G. (Author) , Núñez, A. Sáez (Author) , Sagristà Sellés, Antoni (Author) , Sahlmann, J. (Author) , Salguero, E. (Author) , Samaras, N. (Author) , Gimenez, V. Sanchez (Author) , Sanna, N. (Author) , Santoveña, R. (Author) , Sarasso, M. (Author) , Schultheis, M. (Author) , Sciacca, E. (Author) , Segol, M. (Author) , Segovia, J. C. (Author) , Ségransan, D. (Author) , Semeux, D. (Author) , Shahaf, S. (Author) , Siddiqui, H. I. (Author) , Siebert, A. (Author) , Siltala, L. (Author) , Silvelo, A. (Author) , Slezak, E. (Author) , Slezak, I. (Author) , Smart, R. L. (Author) , Snaith, O. N. (Author) , Solano, E. (Author) , Solitro, F. (Author) , Souami, D. (Author) , Souchay, J. (Author) , Spagna, A. (Author) , Spina, L. (Author) , Spoto, F. (Author) , Steele, I. A. (Author) , Stephenson, C. A. (Author) , Süveges, M. (Author) , Surdej, J. (Author) , Szabados, L. (Author) , Szegedi-Elek, E. (Author) , Taris, F. (Author) , Taylor, M. B. (Author) , Teixeira, R. (Author) , Tolomei, L. (Author) , Tonello, N. (Author) , Elipe, G. Torralba (Author) , Trabucchi, M. (Author) , Tsounis, A. T. (Author) , Turon, C. (Author) , Ulla, A. (Author) , Unger, N. (Author) , Vaillant, M. V. (Author) , Dillen, E. van (Author) , Reeven, W. van (Author) , Vanel, O. (Author) , Vecchiato, A. (Author) , Viala, Y. (Author) , Vicente, D. (Author) , Voutsinas, S. (Author) , Weiler, M. (Author) , Wevers, T. (Author) , Wyrzykowski, Ł (Author) , Yoldas, A. (Author) , Yvard, P. (Author) , Zhao, H. (Author) , Zorec, J. (Author) , Zucker, S. (Author) , Zwitter, T. (Author) ,
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Proceedings of the Conference on Computational Humanities Research 2021: Amsterdam, the Netherlands, November 17-19, 2021
Other Authors: “…Wevers, Melvin…”
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Conference Paper Online Resource -
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CHR 2020: Computational Humanities Research 2020: proceedings of the Workshop on Computational Humanities Research (CHR 2020) : Amsterdam, the Netherlands, November 18-20, 2020
Other Authors: “…Wevers, Melvin…”
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Conference Paper Online Resource -
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Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,
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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Morava-Kozicz, Eva (Author) , Tiemes, Vera (Author) , Thiel, Christian (Author) , Seta, Nathalie (Author) , Lonlay, Pascale de (Author) , Klerk, Hans de (Author) , Mulder, Margot (Author) , Rubio‐Gozalbo, Estela (Author) , Visser, Gepke (Author) , Hasselt, Peter van (Author) , Horovitz, Dafne D. G. (Author) , Souza, Carolina Fischinger Moura de (Author) , Schwartz, Ida V. D. (Author) , Green, Andrew (Author) , Al‐Owain, Mohammed (Author) , Uziel, Graciella (Author) , Sigaudy, Sabine (Author) , Chabrol, Brigitte (Author) , Spronsen, Franc-Jan van (Author) , Steinert, Martin (Author) , Komini, Eleni (Author) , Wurm, Donald (Author) , Bevot, Andrea (Author) , Ayadi, Addelkarim (Author) , Huijben, Karin (Author) , Dercksen, Marli (Author) , Witters, Peter (Author) , Jaeken, Jaak (Author) , Matthijs, Gert (Author) , Lefeber, Dirk J. (Author) , Wevers, Ron A. (Author) ,
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Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood
Other Authors: “…Wevers, Ron A.…”
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MACS syndrome: a combined collagen and elastin disorder due to abnormal Golgi trafficking by Albrecht, Beate Hilde (Author) , de Brouwer, Arjan P. (Author) , Lefeber, Dirk J. (Author) , Cremer, Kirsten (Author) , Haußer-Siller, Ingrid (Author) , Rossen, Nick (Author) , Wortmann, Saskia B. (Author) , Wevers, Ron A. (Author) , Kornak, Uwe (Author) , Morava, Eva (Author) ,
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Article (Journal) Editorial Online Resource -
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Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations by Drijvers, Jefte M. (Author) , Lefeber, Dj (Author) , De Munnik, Sa (Author) , Pfundt, R (Author) , Van De Leeuw, N (Author) , Marcelis, C (Author) , Thiel, Christian (Author) , Koerner, C (Author) , Wevers, Ra (Author) , Morava, E (Author) ,
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder by Leen, Wilhelmina (Author) , Klepper, Joerg (Author) , Verbeek, Marcel M. (Author) , Leferink, Maike (Author) , Hofste, Tom (Author) , van Engelen, Baziel G. (Author) , Wevers, Ron A. (Author) , Arthur, Todd (Author) , Bahi-Buisson, Nadia (Author) , Ballhausen, Diana (Author) , Bekhof, Jolita (Author) , van Bogaert, Patrick (Author) , Carrilho, Inês (Author) , Chabrol, Brigitte (Author) , Champion, Michael P. (Author) , Coldwell, James (Author) , Clayton, Peter (Author) , Donner, Elizabeth (Author) , Evangeliou, Athanasios (Author) , Ebinger, Friedrich (Author) , Farrell, Kevin (Author) , Forsyth, Rob J. (Author) , de Goede, Christian G. E. L. (Author) , Gross, Stephanie (Author) , Grunewald, Stephanie (Author) , Holthausen, Hans (Author) , Jayawant, Sandeep (Author) , Lachlan, Katherine (Author) , Laugel, Vincent (Author) , Leppig, Kathy (Author) , Lim, Ming J. (Author) , Mancini, Grazia (Author) , Marina, Adela Della (Author) , Martorell, Loreto (Author) , McMenamin, Joe (Author) , Meuwissen, Marije E. C. (Author) , Mundy, Helen (Author) , Nilsson, Nils O. (Author) , Panzer, Axel (Author) , Poll-The, Bwee T. (Author) , Rauscher, Christian (Author) , Rouselle, Christophe M. R. (Author) , Sandvig, Inger (Author) , Scheffner, Thomas (Author) , Sheridan, Eamonn (Author) , Simpson, Neil (Author) , Sykora, Parol (Author) , Tomlinson, Richard (Author) , Trounce, John (Author) , Webb, David (Author) , Weschke, Bernhard (Author) , Scheffer, Hans (Author) , Willemsen, Michél A. (Author) ,
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism by Morava-Kozicz, Eva (Author) , Wevers, Ron A. (Author) , Cantagrel, Vincent (Author) , Hoefsloot, Lies H. (Author) , Al-Gazali, Lihadh (Author) , Schoots, Jeroen (Author) , Rooij, Arno van (Author) , Huijben, Karin (Author) , Ravenswaaij-Arts, Connie M. A. van (Author) , Jongmans, Marjolein C. J. (Author) , Sykut-Cegielska, Jolanta (Author) , Hoffmann, Georg F. (Author) , Bluemel, Peter (Author) , Adamowicz, Maciej (Author) , Reeuwijk, Jeroen van (Author) , Ng, Bobby G. (Author) , Bergman, Jorieke E. H. (Author) , van Bokhoven, Hans (Author) , Körner, Christian (Author) , Babovic-Vuksanovic, Dusica (Author) , Willemsen, Michel A. (Author) , Gleeson, Joseph G. (Author) , Lehle, Ludwig (Author) , Brouwer, Arjan P. M. de (Author) , Lefeber, Dirk J. (Author) ,
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Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis by Willemsen, Michèl A. (Author) , Verbeek, Marcel M. (Author) , Kamsteeg, Erik-Jan (Author) , Rijk-van Andel, Johanneke F. de (Author) , Aeby, Alec (Author) , Blau, Nenad (Author) , Burlina, Alberto (Author) , Donati, Maria A. (Author) , Geurtz, Ben (Author) , Grattan-Smith, Padraic J. (Author) , Haeussler, Martin (Author) , Hoffmann, Georg F. (Author) , Jung, Hans (Author) , Klerk, Johannis B. de (Author) , Van der Knaap, Marjo S. (Author) , Kok, Fernando (Author) , Leuzzi, Vincenzo (Author) , Lonlay, Pascale de (Author) , Megarbane, Andre (Author) , Monaghan, Hugh (Author) , Renier, Willy O. (Author) , Rondot, Pierre (Author) , Ryan, Monique M. (Author) , Seeger, Jürgen (Author) , Smeitink, Jan A. (Author) , Steenbergen-Spanjers, Gerry C. (Author) , Wassmer, Evangeline (Author) , Weschke, Bernhard (Author) , Wijburg, Frits A. (Author) , Wilcken, Bridget (Author) , Zafeiriou, Dimitrios I. (Author) , Wevers, Ron A. (Author) ,
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Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia by Hoffmann, Georg F. (Author) , Assmann, Birgit (Author) , Bräutigam, Christa (Author) , Dionisi‐Vici, Carlo (Author) , Häussler, Martin (Author) , Klerk, Johannes B. C. De (Author) , Naumann, Markus (Author) , Steenbergen‐Spanjers, Gerry C. H. (Author) , Strassburg, Hans-Michael (Author) , Wevers, Ron A. (Author) ,
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Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency by Bräutigam, Christa (Author) , Hyland, K. (Author) , Wevers, R. (Author) , Sharma, R. (Author) , Wagner, L. (Author) , Stock, G.-J. (Author) , Heitmann, F. (Author) , Hoffmann, Georg F. (Author) ,
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Neurotransmitter metabolites in CSF: an external quality control scheme by Bräutigam, Christa (Author) , Weykamp, C. (Author) , Hoffmann, Georg F. (Author) , Wevers, R. A. (Author) ,
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Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: Diagnostic tools for a new inborn error of metabolism by Schulze, Andreas (Author) , Heß, Thomas (Author) , Wevers, Ron (Author) , Mayatepek, Ertan (Author) , Bachert, Peter (Author) , Marescau, Bart (Author) , Knopp, Michael V. (Author) , De Deyn, Peter Paul (Author) , Bremer, Hans J. (Author) , Rating, Dietz (Author) ,
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