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: Ramirez, Neftali, Posadas-Cantera, Sara, Langer, Niko, de Oteyza, Andres Caballero Garcia, Proietti, Michele, Keller, Baerbel, Zhao, Fangwen, Gernedl, Victoria, Pecoraro, Matteo, Eibel, Hermann, Warnatz, Klaus, Ballestar, Esteban, Geiger, Roger, Bossen, Claudia, Grimbacher, Bodo

المساهمون: European Research Council, Bundesministerium für Bildung und Forschung, Deutsche Forschungsgemeinschaft

المصدر: Frontiers in Immunology ; volume 13 ; ISSN 1664-3224

الاتاحة: http://dx.doi.org/10.3389/fimmu.2022.938240
https://www.frontiersin.org/articles/10.3389/fimmu.2022.938240/full

المؤلفون: Kury, Patrick, Staniek, Julian, Wegehaupt, Oliver, Janowska, Iga, Eckenweiler, Matthias, Korinthenberg, Rudolf, Japaridze, Natia, Pendziwiat, Manuela, Helbig, Ingo, Verhoeyen, Els, Jung, Johannes, Garcia de Oteyza, Andres Caballero, Proietti, Michele, Phirtskhalaishvili, Tamar, Rtskhiladze, Irakli, Nielsen, Peter J., Ehl, Stephan, Speckmann, Carsten, Rizzi, Marta

المساهمون: DFG

المصدر: Journal of Allergy and Clinical Immunology ; volume 147, issue 5, page 1977-1980 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2021.01.027
https://api.elsevier.com/content/article/PII:S0091674921001743?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674921001743?httpAccept=text/plain

المؤلفون: Peng, Xiao P., de Oteyza, Andres Caballero G., Proietti, Michele, Crisponi, Laura

المصدر: Clinical Immunology. - 250 (2023) , 109508, ISSN: 1521-6616

Relation: https://freidok.uni-freiburg.de/data/253894

الاتاحة: https://freidok.uni-freiburg.de/data/253894
https://doi.org/10.1016/j.clim.2023.109508

المؤلفون: Alizadeh, Zahra, Fazlollahi, Mohammad Reza, Mazinani, Marzieh, Badalzadeh, Mohsen, Heydarlou, Hanieh, Carapito, Raphaël, Molitor, Anne, de Oteyza, Andrés Caballero Garcia, Proietti, Michele, Bavani, Maryam Soleimani, Shariat, Mansoureh, Fallahpour, Morteza, Movahedi, Masoud, Moradi, Leila, Grimbacher, Bodo, Bahram, Seiamak, Pourpak, Zahra

المساهمون: Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1476-5470 ; Genes and Immunity ; https://hal.science/hal-04383910 ; Genes and Immunity, 2023, 24 (4), pp.207-214. ⟨10.1038/s41435-023-00215-w⟩.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: hal-04383910; https://hal.science/hal-04383910

الاتاحة: https://hal.science/hal-04383910
https://doi.org/10.1038/s41435-023-00215-w

المؤلفون: Hargreaves, Chantal E., Dhalla, Fatima, Patel, Arzoo M., de Oteyza, Andrés Caballero Garcia, Bateman, Elizabeth, Miller, Joanne, Anzilotti, Consuelo, Ayers, Lisa, Grimbacher, Bodo, Patel, Smita Y.

المصدر: Clinical Immunology ; volume 234, page 108910 ; ISSN 1521-6616

الاتاحة: http://dx.doi.org/10.1016/j.clim.2021.108910
https://api.elsevier.com/content/article/PII:S1521661621002473?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1521661621002473?httpAccept=text/plain

المؤلفون: Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca

المصدر: European Journal of Human Genetics ; volume 21, issue 11, page 1214-1218 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2013.29
http://www.nature.com/articles/ejhg201329.pdf
http://www.nature.com/articles/ejhg201329

المؤلفون: Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni

المصدر: The American Journal of Human Genetics ; volume 92, issue 2, page 238-244 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.11.021
https://api.elsevier.com/content/article/PII:S0002929712006349?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712006349?httpAccept=text/plain

المؤلفون: Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

المصدر: The American Journal of Human Genetics ; volume 91, issue 6, page 1051-1064 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2012.11.001
https://api.elsevier.com/content/article/PII:S0002929712005794?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929712005794?httpAccept=text/plain

المؤلفون: Oteyza, Andrés Caballero, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P., Gonzalez, Michael A., Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Gunther, Ziichner, Stephan, Schöls, Ludger, Schüle, Rebecca

المصدر: Neurology; 6/3/2014, Vol. 82 Issue 22, p2007-2016, 10p