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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Comparison of the ABC and ACMG systems for variant classification 2024 . Houge, Gunnar \| Bratland, Eirik \| Aukrust, Ingvild \| Tveten, Kristian \| Žukauskaitė, Gabrielė \| Sansović, Ivona \| Brea-Fernández, Alejandro \| Mayer, Karin \| Paakkola, Teija \| McKenna, Caoimhe \| Wright, William \| Keckarevic Markovic, Milica \| Lildballe, Dorte \| Konecny, Michal \| Smol, Thomas \| Alhopuro, Pia \| Gouttenoire, Estelle Arnaud \| Obeid, Katharina \| Todorova, Albena \| Jankovic, Milena \| Lubieniecka, Joanna M. \| Stojiljkovic, Maja \| Buisine, Marie-Pierre \| Haukanes, Bjørn Ivar \| Lorans, Marie \| Roomere, Hanno \| Petit, François \| Haanpää, Maria K \| beneteau, Claire \| Pérez, Belén \| Plaseska-Karanfilska, Dijana \| Rath, Matthias \| Fuhrmann, Nico \| Ferreira, Bibiana I. \| Stephanou, Coralea \| Sjursen, Wenche \| Maver, Aleš \| Rouzier, cecile \| Chirita-Emandi, Adela \| Gonçalves, João \| Kuek, Wei Cheng David \| Broly, Martin \| Haer-Wigman, Lonneke \| Thong, Meow-Keong \| Tae, Sok Kun \| Hyblova, Michaela \| den Dunnen, Johan T. \| Laner, Andreas	2024		http://purl.org/ontology/bibo/Article
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations 2024 . Dollfus , Hélène \| Lilien, Marc \| Maffei, Pietro \| VERLOES, Alain \| Muller, Jean \| Bacci, Giacomo Maria \| Cetiner, Metin \| van den Akker, Erica \| Grudzinska Pechhacker, Monika \| Testa, Francesco \| Lacombe, Didier \| Stokman, Marijn F. \| Simonelli, Francesca \| Gouronc, Aurélie \| Gavard, Amélie \| van Haelst, Mieke \| König, Jens \| Rossignol, Sylvie \| Bergmann, Carsten \| Zacchia, Miriam \| LEROY, Bart Peter \| Mosbah, Héléna \| van Eerde, Albertien M. \| Mekahli, Djalila \| Servais, Aude \| Poitou, Christine \| Valverde, Diana	2024		http://purl.org/ontology/bibo/Article
ERN GENTURIS guidelines on constitutional mismatch repair deficiency diagnosis, genetic counselling, surveillance, quality of life, and clinical management 2024 . Colas, Chrystelle \| Guerrini-Rousseau, Léa \| Suerink, Manon \| Gallon, Richard \| Kratz, Christian \| Ayuso, Éloïse \| ERN GENTURIS CMMRD Guideline Group \| Andreiuolo, Felipe \| Azizi, Amedeo \| Beccaria, Kevin \| Burkhardt, Birgit \| Claret, Beatrice \| Dangouloff-ros, Volodia \| Drouet, Youenn \| Jongmans, Marjolijn C. J. \| van Kouwen, Mariëtte \| Ruiz-Ponte, Clara \| Svrcek, Magali \| Member of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) \| Member of the European consortium Care for CMMRD (C4CMMRD) \| Brugières, Laurence \| Wimmer, Katharina	2024		http://purl.org/ontology/bibo/Article
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 2024 . Demidov, German \| Laurie, Steven \| Torella, Annalaura \| PILUSO, Giulio \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Graessner, Holm \| Banka, Siddharth \| Solve-RD consortium \| Macaya, Alfons \| Pérez-Dueñas, Belén \| Jackson, Adam \| Stevanin, Giovanni \| de Sainte Agathe, Jean-Madeleine \| Havlovicová, Markéta \| Horvath, Rita \| Pinelli, Michele \| van Os, Nienke J. H. \| van de Warrenburg, Bart P. C. \| Denommé-Pichon, Anne-Sophie \| Savarese, Marco \| Johari, Mridul \| Dallapiccola, Bruno \| Tartaglia, Marco \| Pauly, Martje G. \| Sommer, Anna Katharina \| Haack, Tobias B. \| Töpf, Ana \| Didier, Lacombe \| Fallerini, Chiara \| Renieri, Alessandra \| Chinnery, Patrick F. \| Natera-de Benito, Daniel \| Nascimento, Andres \| Trimouille, Aurélien \| Munell, Francina \| Marcé-Grau, Anna \| Rabah, Ben Yaou \| Bonne, Gisèle \| Van de Vondel, Liedewei \| Lohmann, Katja \| Ossowski, Stephan	2024		http://purl.org/ontology/bibo/Article
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome 2024 . Geilswijk, Marianne \| Genuardi, Maurizio \| Woodward, Emma Roisin \| Nightingale, Katie \| Huber, Jazzmin \| Madsen, Mia Gebauer \| Liekelema - van der Heij, Dieke \| Lisseman, Ian \| Marlé-Ballangé, Jenny \| McCarthy, Cormac \| Menko, Fred \| Moorselaar, R. Jeroen A. van \| Radzikowska, Elzbieta \| RICHARD, Stéphane \| Rajan, Neil \| Sommerlund, Mette \| Wetscherek (Buzan), Maria Teodora Antuaneta \| Di Donato, Nataliya \| Maher, Eamonn R. \| Brunet, Joan	2024		http://purl.org/ontology/bibo/Article
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci 2024 . Baumann, Alexandra \| Ruckert, Christian \| Meier, Christoph \| Hutschenreiter, Tim \| Remy, Robert \| Schnur, Benedikt \| Döbel, Marvin \| Fankep, Rudel Christian Nkouamedjo \| Skowronek, Dariush \| Kutz, Oliver \| Arnold, Norbert \| Katzke, Anna-Lena \| Forster, Michael \| Kobiela, Anna-Lena \| Thiedig, Katharina \| Zimmer, Andreas \| Ritter, Julia \| Weber, Bernhard H.F. \| Honisch, Ellen \| Hackmann, Karl \| Bioinformatics Working Group of the German Consortium for Hereditary Breast \| Drukewitz, Stephan \| Engel, Christoph \| Frommolt, Peter \| Groß, Eva \| Helmuth, Johannes \| Kowalzyk, Zarah \| Radtke, Maximilian \| Ramser, Juliane \| Uebe, Steffen \| Wang-Gohrke, Shan \| Schmidt, Gunnar \| Sturm, Marc \| Ernst, Corinna	2024		http://purl.org/ontology/bibo/Article
EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer 2024 . McDevitt, Trudi \| Durkie, Miranda \| Arnold, Norbert \| Burghel, George J \| Butler, Samantha \| Claes, Kathleen \| Logan, Peter \| Robinson, Rachel \| Sheils, Katie \| Wolstenholme, Nicola \| Hanson, Helen \| Turnbull, Clare \| Hume, Stacey	2024		http://purl.org/ontology/bibo/Article
Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network 2024 . Maver, Aleš \| Lohmann, Katja \| Borovečki, Fran \| wolstenholme, Nicola \| Taylor, Rachel L. \| Spielmann, Malte \| Haack, Tobias \| Gerberding, Matthias \| Peterlin, Borut \| Graessner, Holm	2024		http://purl.org/ontology/bibo/Article
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases 2024 . Velasco Parra, Harvy Mauricio \| Bertoli-Avella, Aida \| Jaramillo Jaramillo, Carolina \| Cardona Pineda, Danny Styvens \| González, Leonel Andrés \| Naranjo Vanegas, Melisa Sofía \| Valencia-Arango, Juan P. \| Buitrago, Cesar Augusto \| Gutierrez Gonzalez, Jorge Alberto \| Marcello, Jonas \| Bauer, Peter \| Moncada, Juliana Espinosa	2024		http://purl.org/ontology/bibo/Article
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 2021 . Timmann, Dagmar \| Erasmus, Corrie E. \| Reichbauer, Jennifer \| Baets, Jonathan \| Chinnery, Patrick \| Dürr, Alexandra \| Haack, Tobias \| Hengel, Holger \| Kamsteeg, Erik-Jan \| Kamsteeg, Christoph \| Molnar, Judit \| Riess, Olaf \| Schüle, Rebecca \| Stevanin, Giovanni \| Synofzik, Matthis \| Timmerman, Vincent \| van Os, Nienke \| Wayand, Melanie \| Wilke, Carlo \| van de Warrenburg, Bart \| Schöls, Ludger \| Wilke, Carlo \| Bevot, Andrea \| Zuchner, Stephan \| Synofzik, Matthis \| Graessner, Holm \| Zurek, Birte \| Ellwanger, Kornelia \| Ossowski, Stephan \| Demidov, German \| Sturm, Marc \| Schulze-Hentrich, Julia M. \| 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. \| 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 \| 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 \| Rath, Ana \| Hanauer, Marc \| Olry, Annie \| Lagorce, David \| Havrylenko, Svitlana \| Izem, Katia \| Rigour, Fanny \| Durr, Alexandra \| Davoine, Claire-Sophie \| Guillot-Noel, Léna \| Heinzmann, Anna \| Coarelli, Giulia \| Bonne, Gisèle \| Evangelista, Teresinha \| 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 \| 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 \| 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

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