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'e-Article'
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Academic Journal
Jackson, A; Lin, SJ; Jones, EA; Chandler, KE; Orr, D; Moss, C; Haider, Z; Ryan, G; Holden, S; Harrison, M; Burrows, N; Jones, WD; Loveless, M; Petree, C; Stewart, H; Low, K; Donnelly, D; Lovell, S; Drosou, K; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Brown, MA; Caulfield, MJ; Chan, GC; Giess, A; Griffin, JN; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Lakey, A; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; McEntagart, M; Minneci, F; Mitchell, J; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O‘Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; Riess, O; Haack, TB; Graessner, H; Zurek, B; Ellwanger, K; Ossowski, S; Demidov, G; Sturm, M; Schulze-Hentrich, JM; Schüle, R; Kessler, C; Wayand, M; Synofzik, M; Wilke, C; Traschütz, A; Schöls, L; Hengel, H; Heutink, P; Brunner, H; Scheffer, H; Hoogerbrugge, N
Academic Journal
Denommé-Pichon, AS; Bruel, AL; Duffourd, Y; Safraou, H; Thauvin-Robinet, C; Tran Mau-Them, F; Philippe, C; Vitobello, A; Jean-Marçais, N; Moutton, S; Thevenon, J; Faivre, L; Matalonga, L; de Boer, E; Gilissen, C; Hoischen, A; Kleefstra, T; Pfundt, R; de Vries, BBA; Willemsen, MH; Vissers, LELM; Jackson, A; Banka, S; Clayton-Smith, J; Benetti, E; Fallerini, C; Renieri, A; Ciolfi, A; Dallapiccola, B; Pizzi, S; Radio, FC; Tartaglia, M; Ellwanger, K; Graessner, H; Haack, TB; Zurek, B; Havlovicova, M; Macek, M; Ryba, L; Schwarz, M; Votypka, P; López-Martín, E; Posada, M; Mencarelli, MA; Rooryck, C; Trimouille, A; Verloes, A; Abbott, KM; Kerstjens, M; Martín, EL; Maystadt, I; Morleo, M; Nigro, V; Pinelli, M
Conference
67. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 13. Jahreskongress der Technologie-und Methodenplattform für die vernetzte medizinische Forschung e.V. (TMF); 20220821-20220825; sine loco [digital]; DOCAbstr. 103 /20220819/
Academic Journal
Jonker, AH; Tataru, E; Dimmock, DP; Bateman-House, A; Graessner, H; Baynam, G; Augustine, EF; Jaffe, A; Pasmooij, AMG; Iliach, O; Horgan, R; Davies, J; Mitkus, S; Lapteva, L; Synofzik, M; Yu, TW; O’Connor, D; Aartsma-Rus, A
Ther Adv Rare Dis
Therapeutic advances in rare disease 6, 26330040251339204 (2025). doi:10.1177/26330040251339204
Therapeutic advances in rare disease 6, 26330040251339204 (2025). doi:10.1177/26330040251339204
Conference
66. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 12. Jahreskongress der Technologie-und Methodenplattform für die vernetzte medizinische Forschung e.V. (TMF); 20210926-20210930; sine loco [digital]; DOCAbstr. 59 /20210924/
Conference
Lehne, M; Schaaf, J; Storf, H; Martin, T; Graeßner, H; Geihs, S; Lutz, I; Tahar, K; Krefting, D; Berner, R; Hebestreit, H; Schippers, C; Thun, S; Schepers, J
66. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 12. Jahreskongress der Technologie-und Methodenplattform für die vernetzte medizinische Forschung e.V. (TMF); 20210926-20210930; sine loco [digital]; DOCAbstr. 70 /20210924/
Academic Journal
Mancuso, M; Houlden, H; Molnar, M J; Filla, A; Breza, M; Graessner, H ; Bassetti, CLA; Boesch, S (2022). How to approach a neurogenetics diagnosis in different European countries-The EAN Neurogenetics Panel survey. European journal of neurology, 29(7), pp. 1885-1891. Wiley 10.1111/ene.15320
Academic Journal
Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; Luengo, C; Martínez, I; Papakonstantinou, A; Picó-Amador, D; Protasio, J; Thompson, R; Tonda, R; Bayés, M; Bullich, G; Camps-Puchadas, J; Paramonov, I; Trotta, JR; Alonso, A; Attimonelli, M; Béroud, C; Bros-Facer, V; Buske, OJ; Cañada-Pallarés, A; Fernández, JM; Hansson, MG; Horvath, R; Jacobsen, JOB; Kaliyaperumal, R; Lair-Préterre, S; Licata, L; Lopes, P; López-Martín, E; Mascalzoni, D; Monaco, L; Pérez-Jurado, LA; Posada de la Paz, M; Rambla, J; Rath, A; Riess, O; Robinson, PN; Smedley, D; Spalding, D; 't Hoen, PAC; Töpf, A; Zaharieva, I; Graessner, H; Gut, IG; Lochmüller, H; Beltran, S
Academic Journal
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Rémi; Alonso, Angel; Attimonelli, Marcella; Béroud, Christophe; Bros-Facer, Virginie; Buske, Orion J; Cañada-Pallarés, Andrés; Fernández, José M; Hansson, Mats G; Horvath, Rita; Jacobsen, Julius OB; Kaliyaperumal, Rajaram; Lair-Préterre, Séverine; Licata, Luana; Lopes, Pedro; López-Martín, Estrella; Mascalzoni, Deborah; Monaco, Lucia; Pérez-Jurado, Luis A; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter AC; Töpf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G; Lochmüller, Hanns; Beltran, Sergi
Hum Mutat
Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
instname
Repisalud
Instituto de Salud Carlos III (ISCIII)
Universidad Pública de Navarra
Human Mutation: Variation, Informatics and Disease, 43(6), 717-733. WILEY
Academica-e. Repositorio Institucional de la Universidad Pública de Navarra
instname
Repisalud
Instituto de Salud Carlos III (ISCIII)
Universidad Pública de Navarra
Human Mutation: Variation, Informatics and Disease, 43(6), 717-733. WILEY
Conference
Atalaia, A; Ferrer, C Hernandez; Corvó, A; Matalonga, L; Thompson, R; Carmody, L; Piscia, D; Macaya, A; Lochmuller, A; Manta, A; Fontaine, B; Vicart, S; Desaphy, Jf; Altamura, C; Wahbi, K; de Sandre-Giovannoli, Annachiara; Vigouroux, C; Zurek, B; Rheinard, C; Andrés, D Gómez; Schon, K; Over, L; Brüggemann, N; Lohmann, K; Jennings, Mj; Synofzik, M; Riess, O; Yaou, R Ben; Evangelista, T; Ratnaike, T; Facer, V Bros; Gumus, G; Horvath, R; Chinnery, P; Laurie, S; Graessner, H; Robinson, P; Lochmuller, H; Beltran, S; Bonne, Gisèle
Conference
Atalaia, A; Thompson, R; Corvo, A; Carmody, L; Piscia, D; Matalonga, L; Macaya, A; Lochmuller, A; Fontaine, B; Zurek, B; Hernandez-Ferrer, C; Rheinard, C; Gómez-Andrés, D; Schon, K; Lohmann, K; Jennings, M; Riess, O; Ben Yaou, R; Evangelista, T; Ratnaike, T; Bros-Facer, V; Gumus, G; Horvath, R; Chinnery, P; Laurie, S; Graessner, H; Robinson, P; Lochmuller, H; Beltran, S; Bonne, Gisèle
Academic Journal
Painous C; Neurology Service, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic Universitari, University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.; van Os NJH; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Delamarre A; Institut des Maladies Neurodégénératives, UMR 5293, Université de Bordeaux, Bordeaux, France.; UMR 5293, CNRS, Institut des Maladies Neurodégénératives, Bordeaux, France.; Michailoviene I; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius, Vilnius University, Lithuania.; Marti MJ; Neurology Service, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic Universitari, University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Spain.; van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Meissner WG; Institut des Maladies Neurodégénératives, UMR 5293, Université de Bordeaux, Bordeaux, France.; UMR 5293, CNRS, Institut des Maladies Neurodégénératives, Bordeaux, France.; Department of Medicine, University of Otago, Christchurch, New Zealand.; New Zealand Brain Research Institute, Christchurch, New Zealand.; Utkus A; Faculty of Medicine, Institute of Biomedical Sciences, Vilnius, Vilnius University, Lithuania.; Reinhard C; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Graessner H; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; Tijssen MA; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE
Denommé-Pichon, AS; de Boer, E; Benetti, E; Banka, S; Casari, G; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Ellwanger, K; Faivre, L; Gilissen, C; Graessner, H; Haack, TB; Hammarsjö, A; Havlovicova, M; Hoischen, A; Hugon, A; Kleefstra, T; Lindstrand, A; López-Martín, E; Macek, M; Matalonga, L; Morleo, M; Nigro, V; Nordgren, A; Pettersson, M; Pinelli, M; Pizzi, S; Posada, M; Radio, FC; Renieri, A; Rooryck, C; Ryba, L; Tartaglia, M; Thauvin, C; Torella, A; Trimouille, A; Votypka, P; Vyshka, K; Zurek, B; Verloes, A; Vitobello, A; Vissers, L
Denommé-Pichon, AS, de Boer, E, Benetti, E, Banka, S, Casari, G, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Ellwanger, K, Faivre, L, Gilissen, C, Graessner, H , Haack, TB, Hammarsjö, A, Havlovicova, M, Hoischen, A, Hugon, A, Kleefstra, T, Lindstrand, A, López-Martín, E, Macek, M, Matalonga, L, Morleo, M, Nigro, V, Nordgren, A, Pettersson, M, Pinelli, M, Pizzi, S, Posada, M, Radio, FC, Renieri, A, Rooryck, C, Ryba, L, Tartaglia, M, Thauvin, C, Torella, A, Trimouille, A, Votypka, P, Vyshka, K, Zurek, B, Verloes, A, Vitobello, A & Vissers, L 2022, 'Solve-RD : the ITHACA perspective', European Journal of Human Genetics, vol. 30, no. SUPPL 1, pp. 236-237.
Conference
Storf, H; Haase, J; Hernandez, N; Schröder, CC; Göbel, J; Tegtbauer, N; Ahmed, A; Peschke, B; Windhorst, G; Biehl, L; Nyoungui, E; Schmidtke, J; Graessner, H; Ückert, F; Wagner, T
HEC 2016: Health-Exploring Complexity; Joint Conference of GMDS, DGEpi, IEA-EEF, EFMI; 20160828-20160902; München; DOCAbstr. 637 /20160808/
Conference
Hartz, T; Storf, H; Pfeiffer, W; Tegtbauer, N; Göbel, J; Michel, A; Eymann, J; Graessner, H; Biehl, L; Wagner, T; Ückert, F
GMDS 2015; 60. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS); 20150906-20150909; Krefeld; DOCAbstr. 209 /20150827/
Conference
Storf, H; Hartz, T; Schmidtke, J; Derks, M; Rommel, K; Nyoungui, E; Graessner, H; Wagner, T; Ückert, F
GMDS 2014; 59. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS); 20140907-20140910; Göttingen; DOCAbstr. 211 /20140904/
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[AR] Graessner, H
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