المؤلفون: Malina, Jekaterina, Huessler, Eva-Maria, Jöckel, Karl-Heinz, Boog-Whiteside, Eva, Jeschonneck, Nicole, Schröder, Bernadette, Schüle, Rebecca, Kühl, Tobias, Klebe, Stephan

مصطلحات موضوعية: ScholarlyArticle, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Klinik für Neurologie, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Medizinische Informatik, Biometrie und Epidemiologie, Health-related quality of life -- Hereditary spastic paraplegia -- Patient-centered outcome measure

الاتاحة: https://doi.org/10.1186/s13023-023-03012-w
https://nbn-resolving.org/urn:nbn:de:hbz:465-20250114-125816-6
https://duepublico2.uni-due.de/receive/duepublico_mods_00082283
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00082432/s13023-023-03012-w.pdf

المؤلفون: Hamdan, Alzahra, Hendrickx, Niels, Hooker, Andrew C., Chen, Xiaomei, Comets, Emmanuelle, Traschütz, Andreas, Schüle, Rebecca, Mentré, France, Synofzik, Matthis, Karlsson, Mats O.

مصطلحات موضوعية: Neurology, Neurologi

وصف الملف: application/pdf

Relation: Clinical Pharmacology and Therapeutics, 0009-9236, 2024, 116:6, s. 1593-1605; ISI:001336825200001

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-545203
https://doi.org/10.1002/cpt.3466

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Ellwanger, Kornelia, Brill, Julie A., de Boer, Elke, Efthymiou, Stephanie, Elgersma, Ype, Icmat, Marynelle, Lecoquierre, François, Lobato, Amanda G., Morleo, Manuela, Ori, Michela, Schaffer, Ashleigh E., Vitobello, Antonio, Wells, Sara, Yalcin, Binnaz, Zhai, R. Grace, Sturm, Marc, Zurek, Birte, Graessner, Holm, Bermejo-Sánchez, Eva, Evangelista, Teresinha, Hoogerbrugge, Nicoline, Nigro, Vincenzo, Schüle, Rebecca, Verloes, Alain, Brunner, Han, Campeau, Philippe M., Lasko, Paul, Riess, Olaf

المصدر: Ellwanger , K , Brill , J A , de Boer , E , Efthymiou , S , Elgersma , Y , Icmat , M , Lecoquierre , F , Lobato , A G , Morleo , M , Ori , M , Schaffer , A E , Vitobello , A , Wells , S , Yalcin , B , Zhai , R G , Sturm , M , Zurek , B , Graessner , H , Bermejo-Sánchez , E , Evangelista , T , Hoogerbrugge , N , Nigro , V , Schüle , R , Verloes , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/988cfd24-bc39-4601-9382-2c8adbe6fcbb
https://doi.org/10.1038/s41684-024-01395-2
https://pure.eur.nl/ws/files/156546379/Model_matchmaking_via_the_Solve-RD_Rare_Disease_Models_Mechanisms_Network_RDMM-Europe_.pdf
http://www.scopus.com/inward/record.url?scp=85196915167&partnerID=8YFLogxK

المؤلفون: Hendrickx, Niels, Mentré, France, Traschütz, Andreas, Gagnon, Cynthia, Schüle, Rebecca, Synofzik, Matthis, Comets, Emmanuelle

المساهمون: Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Eberhard Karls Universität Tübingen = University of Tübingen, German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), Université de Sherbrooke (UdeS), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: ISSN: 1550-7416 ; AAPS Journal ; https://u-paris.hal.science/hal-04595615 ; AAPS Journal, 2024, 26 (3), pp.57. ⟨10.1208/s12248-024-00925-7⟩ ; https://link.springer.com/article/10.1208/s12248-024-00925-7.

مصطلحات موضوعية: SARA score, Genetic cerebellar ataxia, Individual predictions, Multiple imputation, Non-linear mixed effect models, MESH: Adolescent, MESH: Adult, MESH: Prospective Studies, MESH: Rare Diseases, MESH: Registries, MESH: Severity of Illness Index, MESH: Spinocerebellar Ataxias, MESH: Uncertainty, MESH: Infant, Newborn, MESH: Child, Preschool, MESH: Female, MESH: Humans, MESH: Male, MESH: Middle Aged, MESH: Young Adult, MESH: Disease Progression, MESH: Muscle Spasticity, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38689016; hal-04595615; https://u-paris.hal.science/hal-04595615; https://u-paris.hal.science/hal-04595615/document; https://u-paris.hal.science/hal-04595615/file/s12248-024-00925-7-1.pdf; PUBMED: 38689016

الاتاحة: https://u-paris.hal.science/hal-04595615
https://u-paris.hal.science/hal-04595615/document
https://u-paris.hal.science/hal-04595615/file/s12248-024-00925-7-1.pdf
https://doi.org/10.1208/s12248-024-00925-7

المؤلفون: Ehnert, Sabrina, Hauser, Stefan, Hengel, Holger, Hoeflinger, Philip, Schuele, Rebecca, Lindig, Tobias, Baets, Jonathan, Deconinck, Tine, De Jonghe, Peter, Histing, Tina, Nuessler, Andreas K., Schoels, Ludger, Rattay, Tim W.

المصدر: 2045-2322 ; Scientific reports

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/grantAgreement/EC/fp7/305121; info:eu-repo/semantics/altIdentifier/isi/001196356400115

الاتاحة: https://hdl.handle.net/10067/2055760151162165141
https://repository.uantwerpen.be/docstore/d:irua:23335

المؤلفون: Hamdan, Alzahra, Hooker, Andrew C., Chen, Xiaomei, Traschütz, Andreas, Schüle, Rebecca, Synofzik, Matthis, Karlsson, Mats O.

مصطلحات موضوعية: Pharmaceutical Sciences, Farmaceutiska vetenskaper

وصف الملف: application/pdf

Relation: CPT : Pharmacometrics and Systems Pharmacology (PSP), 2024, 13:8, s. 1327-1340; PMID 38769902; ISI:001227496100001

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-541050
https://doi.org/10.1002/psp4.13162

المؤلفون: Beichert, Lukas, Ilg, Winfried, Kessler, Christoph, Traschütz, Andreas, Reich, Selina, Santorelli, Filippo M., Başak, Ayşe Nazli, Gagnon, Cynthia, Schüle, Rebecca, Synofzik, Matthis

المساهمون: Deutsche Forschungsgemeinschaft, Else Kröner-Fresenius-Stiftung, Medizinischen Fakultät, Eberhard Karls Universität Tübingen, Ministero della Salute

المصدر: Movement Disorders ; volume 39, issue 9, page 1544-1555 ; ISSN 0885-3185 1531-8257

الاتاحة: http://dx.doi.org/10.1002/mds.29876

المؤلفون: Ibrahim, Alzhraa A., Ollenschläger, Malte, Klebe, Stephan, Schüle, Rebecca, Jeschonneck, Nicole, Kellner, Melanie, Loris, Evelyn, Greinwalder, Teresa, Eskofier, Bjoern M., Winkler, Jürgen, Gaßner, Heiko, Regensburger, Martin

المساهمون: Deutsche Forschungsgemeinschaft, Bundesministerium für Bildung und Forschung, Else Kröner-Fresenius-Stiftung, Forschungsstiftung Medizin am Universitätsklinikum Erlangen

المصدر: European Journal of Neurology ; volume 31, issue 8 ; ISSN 1351-5101 1468-1331

الاتاحة: http://dx.doi.org/10.1111/ene.16367
https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.16367

المؤلفون: Hermle, Dominik, Schubert, Robin, Barallon, Pascal, Ilg, Winfried, Schüle, Rebecca, Reilmann, Ralf, Synofzik, Matthis, Traschütz, Andreas

المساهمون: Bundesministerium für Bildung und Forschung, Else Kröner-Fresenius-Stiftung, Eberhard Karls Universität Tübingen

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 5, page 1097-1109 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.52024
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52024

المؤلفون: Hendrickx, Niels, Mentré, France, Traschütz, Andreas, Gagnon, Cynthia, Schüle, Rebecca, Synofzik, Matthis, Comets, Emmanuelle

المصدر: The AAPS Journal ; volume 26, issue 4 ; ISSN 1550-7416

الاتاحة: https://doi.org/10.1208/s12248-024-00932-8
https://link.springer.com/content/pdf/10.1208/s12248-024-00932-8.pdf
https://link.springer.com/article/10.1208/s12248-024-00932-8/fulltext.html

المؤلفون: Manibarathi, Kalaivani, Pham, Tam, Hengel, Holger, Synofzik, Matthis, Nagel, Maike, Schüle, Rebecca

المصدر: Stem Cell Research ; volume 76, page 103363 ; ISSN 1873-5061

الاتاحة: http://dx.doi.org/10.1016/j.scr.2024.103363
https://api.elsevier.com/content/article/PII:S1873506124000618?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1873506124000618?httpAccept=text/plain

المؤلفون: Yaldiz, Burcu, Kucuk, Erdi, Hampstead, Juliet, Hofste, Tom, Pfundt, Rolph, Corominas Galbany, Jordi, Rinne, Tuula, Yntema, Helger G., Hoischen, Alexander, Nelen, Marcel, Gilissen, Christian, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoen, Peter A.C.’t, Vissers, Lisenka E.L.M., Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik Jan, van de Warrenburg, Bart, van Os, Nienke, te Paske, Iris, Janssen, Erik, Clayton-Smith, Jill, Banka, Siddharth, Jackson, Adam

المصدر: Yaldiz , B , Kucuk , E , Hampstead , J , Hofste , T , Pfundt , R , Corominas Galbany , J , Rinne , T , Yntema , H G , Hoischen , A , Nelen , M , Gilissen , C , Solve-RD consortium , Riess , O , Haack , T B , Graessner , H , Zurek , B , Ellwanger , K , Ossowski , S , Demidov , G , Sturm , M , Schulze-Hentrich , J M , Schüle , R , Xu , J , Kessler , C , ....

مصطلحات موضوعية: Exome sequencing, Genome sequencing, Uniformity of coverage, High-Throughput Nucleotide Sequencing/methods, Humans, Genome, Human/genetics, Base Sequence, Exome/genetics, DNA Copy Number Variations/genetics

Relation: https://research.manchester.ac.uk/en/publications/15f63929-4f14-4060-9dcf-0a8606fb1950

الاتاحة: https://research.manchester.ac.uk/en/publications/15f63929-4f14-4060-9dcf-0a8606fb1950
https://doi.org/10.1186/s40246-023-00485-5
http://www.scopus.com/inward/record.url?scp=85158030412&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/a495c011-1d1c-3b12-83e3-9439b2ff7c0d/

المؤلفون: Denommé-Pichon, Anne-Sophie, Matalonga, Leslie, de Boer, Elke, Jackson, Adam, Benetti, Elisa, Banka, Siddharth, Bruel, Ange-Line, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Duffourd, Yannis, Ellwanger, Kornelia, Fallerini, Chiara, Gilissen, Christian, Graessner, Holm, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jean-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Pizzi, Simone, Posada, Manuel, Radio, Francesca Clementina, Renieri, Alessandra, Rooryck, Caroline, Ryba, Lukas, Safraou, Hana, Schwarz, Martin, Tartaglia, Marco, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, MAY, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Genetics in Medicine, 25 (4), 100018 (2023-01-19)

مصطلحات موضوعية: ClinVar, Developmental disorder, Rare diseases, Exome reanalysis, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://doi.org/10.1016/j.gim.2023.100018; urn:issn:1098-3600; urn:issn:1530-0366; https://orbilu.uni.lu/handle/10993/54941; info:hdl:10993/54941; https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf; info:pmid:36681873; wos:001000649600001

الاتاحة: https://orbilu.uni.lu/handle/10993/54941
https://orbilu.uni.lu/bitstream/10993/54941/1/PIIS1098360023000242.pdf
https://doi.org/10.1016/j.gim.2023.100018

المؤلفون: Jackson, Adam, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K., Banka, Siddharth, Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Alexander, Elizabeth, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, De Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas

المساهمون: The Genomics England Research Consortium, Solve-RD consortium

المصدر: Human genetics and genomics advances ; 2666-2477

مصطلحات موضوعية: Human medicine

Relation: info:eu-repo/grantAgreement/EC/h2020/779257; info:eu-repo/semantics/altIdentifier/isi/000961108100001

الاتاحة: https://hdl.handle.net/10067/1996990151162165141
https://repository.uantwerpen.be/docstore/d:irua:19757

المؤلفون: Pellerin, David, Danzi, Matt C, Wilke, Carlo, Renaud, Mathilde, Fazal, Sarah, Dicaire, Marie-Josée, Scriba, Carolin K, Ashton, Catherine, Yanick, Christopher, Beijer, Danique, Rebelo, Adriana, Rocca, Clarissa, Jaunmuktane, Zane, Sonnen, Joshua A, Larivière, Roxanne, Genís, David, Molina Porcel, Laura, Choquet, Karine, Sakalla, Rawan, Provost, Sylvie, Robertson, Rebecca, Allard-Chamard, Xavier, Tétreault, Martine, Reiling, Sarah J, Nagy, Sara, Nishadham, Vikas, Purushottam, Meera, Vengalil, Seena, Bardhan, Mainak, Nalini, Atchayaram, Chen, Zhongbo, Mathieu, Jean, Massie, Rami, Chalk, Colin H, Lafontaine, Anne-Louise, Evoy, François, Rioux, Marie-France, Ragoussis, Jiannis, Boycott, Kym M, Dubé, Marie-Pierre, Duquette, Antoine, Houlden, Henry, Ravenscroft, Gianina, Laing, Nigel G, Lamont, Phillipa J, Saporta, Mario A, Schüle, Rebecca, Schöls, Ludger, La Piana, Roberta, Synofzik, Matthis, Zuchner, Stephan, Brais, Bernard

المصدر: New England Journal of Medicine , 388 pp. 128-141. (2023)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf; https://discovery.ucl.ac.uk/id/eprint/10162059/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162059/1/nejmoa2207406.pdf
https://discovery.ucl.ac.uk/id/eprint/10162059/

المؤلفون: Saffari, Afshin, Kellner, Melanie, Jordan, Catherine, Rosengarten, Helena, Mo, Alisa, Zhang, Bo, Strelko, Oleksandr, Neuser, Sonja, Davis, Marie Y, Yoshikura, Nobuaki, Futamura, Naonobu, Takeuchi, Tomoya, Nabatame, Shin, Ishiura, Hiroyuki, Tsuji, Shoji, Aldeen, Huda Shujaa, Cali, Elisa, Rocca, Clarissa, Houlden, Henry, Efthymiou, Stephanie, SYNaPS Study Group, Assmann, Birgit, Yoon, Grace, Trombetta, Bianca A, Kivisäkk, Pia, Eichler, Florian, Nan, Haitian, Takiyama, Yoshihisa, Tessa, Alessandra, Santorelli, Filippo M, Sahin, Mustafa, Blackstone, Craig, Yang, Edward, Schüle, Rebecca, Ebrahimi-Fakhari, Darius

المصدر: Brain , 146 (5) pp. 2003-2015. (2023)

مصطلحات موضوعية: Ataxia, hereditary spastic paraplegia, movement disorders, speech delay, thin corpus callosum

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10158975/1/awac391.pdf; https://discovery.ucl.ac.uk/id/eprint/10158975/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10158975/1/awac391.pdf
https://discovery.ucl.ac.uk/id/eprint/10158975/

المؤلفون: Jacobi, Heike, Weiler, Markus, Sam, Georges, Heiland, Sabine, Hayes, John M, Bendszus, Martin, Schüle, Rebecca, Hayes, Jennifer C

المصدر: European journal of neurology 30(8), 2442 - 2452 (2023). doi:10.1111/ene.15841

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Spastic Paraplegia, Hereditary: diagnostic imaging, Hereditary: genetics, Peripheral Nerves: diagnostic imaging, Peripheral Nerves: pathology, Peripheral Nervous System Diseases: diagnostic imaging, Peripheral Nervous System Diseases: pathology, Polyneuropathies: pathology, Magnetic Resonance Spectroscopy, Magnetic Resonance Imaging: methods, T2-relaxometry, electrophysiology, hereditary spastic paraplegia, magnetic resonance neurography (MRN), magnetization transfer contrast imaging

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1468-1331; info:eu-repo/semantics/altIdentifier/pmid/pmid:37154411; info:eu-repo/semantics/altIdentifier/issn/1351-5101; https://pub.dzne.de/record/258987; https://pub.dzne.de/search?p=id:%22DZNE-2023-00707%22

الاتاحة: https://pub.dzne.de/record/258987
https://pub.dzne.de/search?p=id:%22DZNE-2023-00707%22

المؤلفون: Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B, Synofzik, Matthis

المصدر: Journal of neurology 270(8), 4112-4117 (2023). doi:10.1007/s00415-023-11745-8

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Friedreich Ataxia: diagnosis, Friedreich Ataxia: genetics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:37119371; info:eu-repo/semantics/altIdentifier/issn/1432-1459; info:eu-repo/semantics/altIdentifier/issn/0340-5354; info:eu-repo/semantics/altIdentifier/issn/0367-004X; info:eu-repo/semantics/altIdentifier/issn/0012-1037; https://pub.dzne.de/record/257889; https://pub.dzne.de/search?p=id:%22DZNE-2023-00517%22

الاتاحة: https://pub.dzne.de/record/257889
https://pub.dzne.de/search?p=id:%22DZNE-2023-00517%22

المؤلفون: Aartsma-Rus, Annemieke, van Roon-Mom, Willeke, Lauffer, Marlen, Siezen, Christine, Duijndam, Britt, Coenen-de Roo, Tineke, Schüle, Rebecca, Synofzik, Matthis, Graessner, Holm

المصدر: RNA 29(4), 446 - 454 (2023). doi:10.1261/rna.079540.122

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Humans, Oligonucleotides: genetics, Oligonucleotides: therapeutic use, Oligonucleotides, Antisense: genetics, Antisense: therapeutic use, Brain, Europe, Brain Diseases: drug therapy, N = 1, antisense oligonucleotides, regulators, treatment, Antisense

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/1469-9001; info:eu-repo/semantics/altIdentifier/pmid/pmid:36669889; info:eu-repo/semantics/altIdentifier/issn/1355-8382; https://pub.dzne.de/record/257309; https://pub.dzne.de/search?p=id:%22DZNE-2023-00378%22

الاتاحة: https://pub.dzne.de/record/257309
https://pub.dzne.de/search?p=id:%22DZNE-2023-00378%22