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1Academic Journal
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
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2Academic Journal
المؤلفون: Johansson, Lennart F., Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephan, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, van der Velde, K. Joeri, Veal, Colin, van der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, Beltran, Sergi, Swertz, Morris A., Brookes, Anthony J.
المصدر: Johansson , L F , Laurie , S , Spalding , D , Gibson , S , Ruvolo , D , Thomas , C , Piscia , D , de Andrade , F , Been , G , Bijlsma , M , Brunner , H , Cimerman , S , Dizjikan , F Y , Ellwanger , K , Fernandez , M , Freeberg , M , van de Geijn , G J , Kanninga , R , Maddi , V , Mehtarizadeh , M , Neerincx , P , Ossowski , S , Rath , A , Roelofs-Prins ....
مصطلحات موضوعية: bioinformatics, computational biology, fair data, genetics, infrastructure, rare disease
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3Academic Journal
المؤلفون: de Boer, Eddy N, Vroom, Vincent, Scheper, Arjen J, Johansson, Lennart F, Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z, Knoers, Nine V A M, Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C
المصدر: de Boer , E N , Vroom , V , Scheper , A J , Johansson , L F , Bosscher , L , Rietema , N , Commandeur-Jan , S Z , Knoers , N V A M , Sikkema-Raddatz , B , van den Berg , E & van Diemen , C C 2024 , ' Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics ' , Scientific Reports , vol. 14 , 8508 . https://doi.org/10.1038/s41598-024-59092-6
مصطلحات موضوعية: Humans, Reproducibility of Results, CRISPR-Cas Systems, Karyotyping, Leukemia, Chromosome Mapping
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: de Visser, Casper, Johansson, Lennart F, Kulkarni, Purva, Mei, Hailiang, Neerincx, Pieter, Joeri van der Velde, K, Horvatovich, Péter, van Gool, Alain J, Swertz, Morris A, Hoen, Peter A C 't, Niehues, Anna
المصدر: de Visser , C , Johansson , L F , Kulkarni , P , Mei , H , Neerincx , P , Joeri van der Velde , K , Horvatovich , P , van Gool , A J , Swertz , M A , Hoen , P A C & Niehues , A 2023 , ' Ten quick tips for building FAIR workflows ' , PLoS Computational Biology , vol. 19 , no. 9 , e1011369 . https://doi.org/10.1371/journal.pcbi.1011369
وصف الملف: application/pdf
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5Report
المؤلفون: Johansson, Lennart F., Laurie, Steven, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Yavari Dizjikan, Farid, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Medtarizadeh, Mehdi, Neerincx, Pieter, Ossowski, Stephan, Rath, Ana, Roelofs-Prins, Dieuwke, Stok-Benjamins, Marloes, van der Velde, K. Joeri, Veal, Colin, van der Vries, Gerben, Wadsley, Marc, Warren, Gregory, Zurek, Birte, Keane, Thomas, Graessner, Holm, MAY, Patrick, Solve-RD consortium, Beltran, Sergi, Swertz, Morris A., Brookes, Anthony J.
المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
مصطلحات موضوعية: Rare diseases, Solve-RD, Life sciences, Genetics & genetic processes, Human health sciences, General & internal medicine, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Médecine générale & interne
Relation: https://orbilu.uni.lu/handle/10993/59128; info:hdl:10993/59128; https://orbilu.uni.lu/bitstream/10993/59128/1/2023.12.20.23299950v1.full.pdf
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6Report
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., MAY, Patrick, Solve-RD, Laurie, Steven
المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)
مصطلحات موضوعية: Rare diseases, Exome sequencing, Copy number variation, Life sciences, Genetics & genetic processes, Human health sciences, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine
Relation: info:eu-repo/grantAgreement/EC/H2020/779257; https://orbilu.uni.lu/handle/10993/57439; info:hdl:10993/57439; https://orbilu.uni.lu/bitstream/10993/57439/1/2023.10.22.23296993v1.full.pdf
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7Conference
المؤلفون: Singh, Gurnoor, Velde, Joeri van der, Beliën, Jeroen, Böhmer, Jasmin, Stemkens, Daphne, Vissers, Lisenka, Reeuwijk, Jeroen van, Hiltemann, Saskia, Johansson, Lennart F., Stoep, Nienke van der, Sie, Daoud, Weiss, Janneke, Frederix, Geert, Roos, Marco, Iperen, Erik van, Vrijenhoek, Terry, Asselbergs, Folkert W., Montfrans, Joris van, Sijmons, Rolf, Deutekom, Hanneke van, Neerincx, Pieter, Andrade, Fernanda de, Niehues, Anna, Kerstens, Hindrik H.D., Thompson, Mark, Kaliyaperumal, Rajaram, Jacobsen, Annika, Wolstencroft, Katy, Nijman, Ies, Nelen, Marcel, Siezen, Ariaan, Hove, Koen ten, Knoers, Nine, Gilissen, Christian, Scheffer, Hans, Willems, Stefan, Zelst-Stams, Wendy van, Ijntema, Helger, Elsink, Kim, Koning, Bart de, Ylstra, Bauke, Sistermans, Erik, Kemmeren, Patrick, Holstege, Henne, Staiger, Christine, Tops, Bastiaan, Rebers, Susanne, Zessen, David van, Retèl, Valesca, Cuppen, Edwin, Tintelen, Peter van, Enckevort, David van, Steeghs, Lieneke, Scholtens, Salome, Laros, Jeroen, Mei, Leon, Oosterwijk, Cor, Stubbs, Andrew, Hoen, Peter A.C. 't, Gijn, Mariëlle van, Swertz, Morris
مصطلحات موضوعية: fair data principles, data sharing, genomics, healthcare, meta-data
Relation: https://doi.org/10.5281/zenodo.3621387; https://doi.org/10.5281/zenodo.3621388; oai:zenodo.org:3621388
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8Academic Journal
المؤلفون: Wei, Jiacong, Meng, Pei, Terpstra, Miente Martijn, van Rijk, Anke, Tamminga, Menno, Scherpen, Frank, Ter Elst, Arja, Alimohamed, Mohamed Z, Johansson, Lennart F, Stigt, Jos, Gijtenbeek, Rolof P G, van Putten, John, Hiltermann, T Jeroen N, Groen, Harry J M, Kok, Klaas, van der Wekken, Anthonie J, van den Berg, Anke
المصدر: Wei , J , Meng , P , Terpstra , M M , van Rijk , A , Tamminga , M , Scherpen , F , Ter Elst , A , Alimohamed , M Z , Johansson , L F , Stigt , J , Gijtenbeek , R P G , van Putten , J , Hiltermann , T J N , Groen , H J M , Kok , K , van der Wekken , A J & van den Berg , A 2021 , ' Clinical Value of EGFR Copy Number Gain Determined by Amplicon-Based Targeted Next ....
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/24efead6-38af-4452-aade-00211fe58ef2
https://research.rug.nl/en/publications/24efead6-38af-4452-aade-00211fe58ef2
https://doi.org/10.1007/s11523-021-00798-2
https://pure.rug.nl/ws/files/160455408/Clinical_Value_of_EGFR_Copy_Number_Gain_Determined_by_Amplicon_Based_Targeted_Next_Generation_Sequencing_in_Patients_with_EGFR_Mutated_NSCLC.pdf -
9Academic Journal
المؤلفون: Alimohamed, Mohamed Z., Johansson, Lennart F., Posafalvi, Anna, Boven, Ludolf G., van Dijk, Krista K., Walters, Lisa, Vos, Yvonne J., Westers, Helga, Hoedemaekers, Yvonne M., Sinke, Richard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Jongbloed, Jan D.H., van der Zwaag, Paul A.
المساهمون: Hartstichting, Universitair Medisch Centrum Groningen
المصدر: International Journal of Cardiology ; volume 332, page 99-104 ; ISSN 0167-5273
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10Academic Journal
المؤلفون: de Boer, Eddy N., Vroom, Vincent, Scheper, Arjen J., Johansson, Lennart F., Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z., Knoers, Nine V. A. M., Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C.
المصدر: Scientific Reports; 4/11/2024, Vol. 14 Issue 1, p1-9, 9p
مصطلحات موضوعية: GENE mapping, LEUKEMIA, JUDGMENT (Psychology), NUCLEOTIDE sequencing, GENOME editing
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11Academic Journal
المؤلفون: Salgado, David, Béroud, Christophe, Armean, Irina M., Baudis, Michael, Beltran, Sergi, Capella-Gutierrez, Salvador, Carvalho-Silva, Denise, Dominguez del Angel, Victoria, Dopazo, Joaquin, Furlong, Laura I., Gao, Bo, Garcia, Leyla, Gerloff, Dietlind, Gut, Ivo, Gyenesei, Attila, Habermann, Nina, Hancock, John M., Hanauer, Marc, Hovig, Eivind, Johansson, Lennart F., Keane, Thomas, Korbel, Jan, Lauer, Katharina B., Laurie, Steve, Leskošek, Brane, Lloyd, David, Marques-Bonet, Tomas, Mei, Hailiang, Monostory, Katalin, Piñero, Janet, Poterlowicz, Krzysztof, Rath, Ana, Samarakoon, Pubudu, Sanz, Ferran, Saunders, Gary, Sie, Daoud, Swertz, Morris A., Tsukanov, Kirill, Valencia, Alfonso, Vidak, Marko, Yenyxe González, Cristina, Ylstra, Bauke
المصدر: Salgado , D , Béroud , C , Armean , I M , Baudis , M , Beltran , S , Capella-Gutierrez , S , Carvalho-Silva , D , Dominguez del Angel , V , Dopazo , J , Furlong , L I , Gao , B , Garcia , L , Gerloff , D , Gut , I , Gyenesei , A , Habermann , N , Hancock , J M , Hanauer , M , Hovig , E , Johansson , L F , Keane , T , Korbel , J , Lauer , K B , ....
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12Academic Journal
المؤلفون: de Boer, Eddy N, Johansson, Lennart F, de Lange, Kim, Bosga-Brouwer, Anneke G, van den Berg, Eva, Sikkema-Raddatz, Birgit, van Diemen, Cleo C
المصدر: de Boer , E N , Johansson , L F , de Lange , K , Bosga-Brouwer , A G , van den Berg , E , Sikkema-Raddatz , B & van Diemen , C C 2020 , ' Detection of Fusion Genes to Determine Minimal Residual Disease in Leukemia Using Next-Generation Sequencing ' , Clinical Chemistry , vol. 66 , no. 8 , pp. 1084-1092 . https://doi.org/10.1093/clinchem/hvaa119
مصطلحات موضوعية: ACUTE MYELOID-LEUKEMIA, DIAGNOSTICS
وصف الملف: application/pdf
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13Academic Journal
المؤلفون: de Lange, Kim, de Boer, Eddy N, Bosga, Anneke, Alimohamed, Mohamed Z, Johansson, Lennart F, Mulder, André B, Vellenga, Edo, van Diemen, Cleo C, Deelen, Patrick, van den Berg, Eva, Sikkema-Raddatz, Birgit
المصدر: de Lange , K , de Boer , E N , Bosga , A , Alimohamed , M Z , Johansson , L F , Mulder , A B , Vellenga , E , van Diemen , C C , Deelen , P , van den Berg , E & Sikkema-Raddatz , B 2020 , ' Targeted RNA-Sequencing Enables Detection of Relevant Translocations and Single Nucleotide Variants and Provides a Method for Classification of Hematological Malignancies-RANKING ' , Clinical Chemistry , vol. 66 , no. 12 , pp. 1521-1530 . https://doi.org/10.1093/clinchem/hvaa221
مصطلحات موضوعية: GENE FUSIONS, EXPRESSION, MUTATIONS, DATABASE, CANCER
وصف الملف: application/pdf
الاتاحة: https://hdl.handle.net/11370/ccb086fc-d903-4f17-ad2d-d84b056c7b44
https://research.rug.nl/en/publications/ccb086fc-d903-4f17-ad2d-d84b056c7b44
https://doi.org/10.1093/clinchem/hvaa221
https://pure.rug.nl/ws/files/154958209/Targeted_RNA_Sequencing_Enables_Detection_of_Relevant_Translocations_and_Single_Nucleotide_Variants_and_Provides_a_Method_for_Classification_of_Hematological_Malignancies_RANKING.pdf -
14Academic Journal
المؤلفون: van der Velde, K. Joeri, van den Hoek, Sander, van Dijk, Freerk, Hendriksen, Dennis, van Diemen, Cleo C., Johansson, Lennart F., Abbott, Kristin M., Deelen, Patrick, Sikkema‐Raddatz, Birgit, Swertz, Morris A.
المساهمون: Nederlandse Organisatie voor Wetenschappelijk Onderzoek
المصدر: Advanced Genetics ; volume 1, issue 1 ; ISSN 2641-6573 2641-6573
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15Academic Journal
المؤلفون: Johansson, Lennart F, Laurie, Steve, Spalding, Dylan, Gibson, Spencer, Ruvolo, David, Thomas, Coline, Piscia, Davide, de Andrade, Fernanda, Been, Gerieke, Bijlsma, Marieke, Brunner, Han, Cimerman, Sandi, Dizjikan, Farid Yavari, Ellwanger, Kornelia, Fernandez, Marcos, Freeberg, Mallory, van de Geijn, Gert-Jan, Kanninga, Roan, Maddi, Vatsalya, Mehtarizadeh, Mehdi
المصدر: GigaScience; 2024, Vol. 13 Issue 1, p1-14, 14p
مصطلحات موضوعية: COMPUTATIONAL biology, RARE diseases, NUCLEOTIDE sequencing, MULTIOMICS, GENETICS, METADATA
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16Academic Journal
المؤلفون: de Boer, Eddy N, van der Wouden, Petra E, Johansson, Lennart F, van Diemen, Cleo C, Haisma, Hidde J
المصدر: de Boer , E N , van der Wouden , P E , Johansson , L F , van Diemen , C C & Haisma , H J 2019 , ' A next-generation sequencing method for gene doping detection that distinguishes low levels of plasmid DNA against a background of genomic DNA ' , Gene Therapy , vol. 26 , no. 7-8 , pp. 338-346 . https://doi.org/10.1038/s41434-019-0091-6
مصطلحات موضوعية: gene doping, next generation sequencing
وصف الملف: application/pdf
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17
المؤلفون: Johansson, Lennart F., de Weerd, Hendrik A., de Boer, Eddy N., van Dijk, Freerk, Te Meerman, Gerard J., Sijmons, Rolf H., Sikkema-Raddatz, Birgit, Swertz, Morris A.
المصدر: BMC Bioinformatics. 19(1)
مصطلحات موضوعية: NIPT, Next-generation sequencing, Trisomy prediction, Bioinformatik, Bioinformatics, INF502 Biomarkörer, INF502 Biomarkers
وصف الملف: electronic
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18Academic Journal
المؤلفون: Alimohamed, Mohamed Z., Johansson, Lennart F., de Boer, Eddy N., Splinter, Erik, Klous, Petra, Yilmaz, Mehmet, Bosga, Anneke, van Min, Max, Mulder, Andre B., Vellenga, Edo, Sinke, Richard J., Sijmons, Rolf H., van den Berg, Eva, Sikkema-Raddatz, Birgit
المصدر: Alimohamed , M Z , Johansson , L F , de Boer , E N , Splinter , E , Klous , P , Yilmaz , M , Bosga , A , van Min , M , Mulder , A B , Vellenga , E , Sinke , R J , Sijmons , R H , van den Berg , E & Sikkema-Raddatz , B 2018 , ' Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification ' , Clinical Chemistry , vol. 64 , no. 7 , pp. 1096-1103 . https://doi.org/10.1373/clinchem.2017.286047
مصطلحات موضوعية: CHRONIC MYELOID-LEUKEMIA, RT-PCR, FUSION GENES, ABERRATIONS, MULTIPLEX, DIAGNOSIS, DISEASE, CANCER, FISH
وصف الملف: application/pdf
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19Academic Journal
المؤلفون: Johansson, Lennart F., De Boer, E. N., De Weerd, H. A., van Dijk, F., Elferink, M. G., Schuring-Blom, G. H., Suijkerbuijk, Ron F, Sinke, Richard J., Te Meerman, G. J., Sijmons, Rolf H., Swertz, Morris A., Sikkema-Raddatz, B.
المساهمون: UMC Utrecht, Genetica, Genetica Medische Informatica, Child Health, Genetica Sectie Genoomdiagnostiek, Cancer
مصطلحات موضوعية: General, Journal Article
وصف الملف: image/pdf
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20Academic Journal
المؤلفون: Sikkema-Raddatz, Birgit, Johansson, Lennart F., De Boer, Eddy N., Boon, Elles M.J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, Van Langen, Irene M., Sinke, Richard J., Te Meerman, Gerard J.
المصدر: Sikkema-Raddatz , B , Johansson , L F , De Boer , E N , Boon , E M J , Suijkerbuijk , R F , Bouman , K , Bilardo , C M , Swertz , M A , Dijkstra , M , Van Langen , I M , Sinke , R J & Te Meerman , G J 2016 , ' NIPTRIC : An online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results ' , Scientific Reports , vol. 6 , 38359 . https://doi.org/10.1038/srep38359
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