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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal 2023 . Senftleber, Ninna \| Andersen, Mette korre \| Jørsboe, Emil \| Stæger, Frederik Filip \| Nøhr, Anne Krogh \| Garcia-Erill, Genís \| Meisner, Jonas \| Santander, Cindy \| Balboa, Renzo \| Gilly, Arthur \| Bjerregaard, Peter \| Larsen, Christina Viskum Lytken \| Grarup, Niels \| Jørgensen, Marit Eika \| Zeggini, Eleftheria \| Moltke, Ida \| Hansen, Torben \| Albrechtsen, Anders	2023		http://purl.org/ontology/bibo/Article
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria 2023 . Savige, Judy \| Storey, Helen \| Watson, Elizabeth \| Hertz, Jens Michael \| Deltas, Constantinos \| Renieri, Alessandra \| Mari, Francesca \| hilbert, pascale \| Plevova, Pavlina \| Byers, Peter \| Cerkauskaite, Agne \| Gregory, Martin \| Cerkauskiene, Rimante \| Ljubanovic, Danica Galesic \| Becherucci, Francesca \| Errichiello, Carmela \| Massella, Laura \| Aiello, Valeria \| Lennon, Rachel \| Hopkinson, Louise \| Koziell, Ania \| Lungu, Adrian \| Rothe, Hansjörg \| Hoefele, Julia \| Zacchia, Miriam \| Martic, Tamara Nikuseva \| Gupta, Asheeta \| van Eerde, Albertien \| Gear, Susie \| LANDINI, SAMUELA \| Palazzo, Viviana \| al-Rabadi, Laith \| Claes, Kathleen \| Corveleyn, Anniek \| Van Hoof, Evelien \| van Geel, Micheel \| Williams, Maggie \| Ashton, Emma \| Belge, Hendica \| Ars, Elisabeth \| Bierzynska, Agnieszka \| Gangemi, Concetta \| Lipska-Ziętkiewicz, Beata S.	2023		http://purl.org/ontology/bibo/Article
Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory 2023 . Bernier, Alexander \| Molnár-Gábor, Fruzsina \| Knoppers, Bartha \| Borry, Pascal \| Dias Guimarães Cesar, Priscilla Maria \| Devriendt, Thijs \| Goisauf, Melanie \| Murtagh, Madeleine \| Jiménez, Pilar Nicolás \| Recuero, Mikel \| Rial-Sebbag, Emmanuelle \| Shabani, Mahsa \| Wilson, Becca \| Zaccagnini, Davide \| Maxwell, Lauren	2023		http://purl.org/ontology/bibo/Article
Persistent thinness and anorexia nervosa differ on a genomic level 2023 . Hübel, Christopher \| Abdulkadir, Mohamed \| Herle, Moritz \| Palmos, Alish \| Loos, Ruth \| Breen, Gerome \| Micali, Nadia \| Bulik, Cynthia	2023		http://purl.org/ontology/bibo/Article
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples 2023 . Wijngaard, Robin \| Demidov, German \| O'Gorman, Luke \| Corominas-Galbany, Jordi \| Yaldiz, Burcu \| Steyaert, Wouter \| de Boer, Elke \| Vissers, Lisenka \| Kamsteeg, Erik-jan \| Pfundt, Rolph \| Swinkels, Hilde \| den Ouden, Amber \| te Paske, Iris B. A. W. \| de Voer, Richarda M \| Faivre, Laurence \| Denommé-Pichon, Anne-Sophie \| Duffourd, Yannis \| Vitobello, Antonio \| Chevarin, Martin \| Straub, Volker \| Topf, Ana \| van der Kooi, Anneke J. \| Magrinelli, Francesca \| Rocca, Clarissa \| Hanna, Michael G. \| Vandrovcova, Jana \| Solve-RD consortium \| Ossowski, Stephan \| Laurie, Steven \| Gilissen, Christian	2023		http://purl.org/ontology/bibo/Article
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies 2021 . Gripp, Karen \| Smithson, Sarah F. \| Scurr, Ingrid J. \| Baptista, Julia \| Majumdar, Anirban \| Pierre, Germaine \| Williams, Maggie \| Henderson, Lindsay B. \| Wentzensen, Ingrid M. \| McLaughlin, Heather \| Leeuwen, Lisette \| Simon, Marleen E. H. \| van Binsbergen, Ellen \| Dinulos, Mary Beth P. \| Kaplan, Julie D. \| McRae, Anne \| Superti-Furga, Andrea \| Good, Jean-Marc \| , Kerstin	2021		http://purl.org/ontology/bibo/Article
Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer 2021 . Wagener, Rabea \| Taeubner, Julia \| Walter, Carolin \| Yasin, Layal \| Alzoubi, Deya \| Bartenhagen, Christoph \| Attarbaschi, Andishe \| Classen, Carl-Friedrich \| Kontny, Udo \| Hauer, Julia \| Fischer, Ute \| Dugas, Martin \| Kuhlen, Michaela \| Borkhardt, Arndt \| Brozou, Triantafyllia	2021		http://purl.org/ontology/bibo/Article
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 2021 . Vissers, Lisenka \| Schüle, Rebecca \| Synofzik, Matthis \| Töpf, Ana \| Gilissen, Christian \| Ossowski, Stephan \| 't Hoen, Peter \| Schulze-Hentrich, Julia M. \| Riess, Olaf \| Brunner, Han G. \| Brookes, Anthony \| Rath, Ana \| Bonne, Gisèle \| hoogerbrugge, nicoline \| Evangelista, Teresinha \| Harmuth, Tina \| Swertz, Morris \| Spalding, John Dylan \| Hoischen, Alexander \| Graessner, Holm \| Haack, Tobias B. \| Zurek, Birte \| Ellwanger, Kornelia \| Demidov, German \| Sturm, Marc \| Kessler, Christoph \| Wayand, Melanie \| Wilke, Carlo \| Traschütz, Andreas \| Schöls, Ludger \| Hengel, Holger \| Heutink, Peter \| Brunner, Han \| Scheffer, Hans \| Steyaert, Wouter \| Sablauskas, Karolis \| de Voer, Richarda M. \| Kamsteeg, Erik-Jan \| van de Warrenburg, Bart \| van Os, Nienke \| te Paske, Iris \| Janssen, Erik \| de Boer, Elke \| Steehouwer, Marloes \| Yaldiz, Burcu \| Kleefstra, Tjitske \| Veal, Colin \| Gibson, Spencer \| Wadsley, Marc \| Mehtarizadeh, Mehdi \| Riaz, Umar \| Warren, Greg \| Dizjikan, Farid Yavari \| Shorter, Thomas \| Straub, Volker \| Bettolo, Chiara Marini \| Specht, Sabine \| Clayton-Smith, Jill \| Banka, Siddharth \| Alexander, Elizabeth \| Jackson, Adam \| 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 \| Gumus, Gulcin \| Bros-Facer, Virginie \| 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 \| Allamand, Valérie \| Nelson, Isabelle \| Yaou, Rabah Ben \| 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 \| 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 \| de la Rosa, F. Javier Alonso García \| 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 \| de Benito, Daniel Natera \| Lochmüller, Hanns \| Thompson, Rachel \| Polavarapu, Kiran \| Beeson, David \| Cossins, Judith \| Cruz, Pedro M. Rodriguez \| 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	2021		http://purl.org/ontology/bibo/Article
International transfers of personal data for health research following Schrems II: a problem in need of a solution 2021 . Hallinan, Dara \| Bernier, Alexander \| Cambon-Thomsen, Anne \| Crawley, Francis P. \| Dimitrova, Diana \| Medeiros, Claudia \| Nilsonne, Gustav \| Parker, Simon \| Pickering, John \| Rennes, Stéphanie	2021		http://purl.org/ontology/bibo/Article
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum 2021 . Buelow, Markus \| Süßmuth, David \| Smith, Laurie D. \| Aryani, Omid \| CASTIGLIONI, CLAUDIA \| Stenzel, Werner \| Bertini, Enrico \| Schuelke, Markus \| Knierim, Ellen	2021		http://purl.org/ontology/bibo/Article

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