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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
Ethical and social implications of public–private partnerships in the context of genomic/big health data collection 2024 . Horn, Ruth \| Merchant, Jennifer \| The UK-FR GENE (Genetics and Ethics Network) Consortium \| Horn, Ruth \| Merchant, Jennifer \| Bale, Mark \| Banner, Natalie \| Cambon-Thomsen, Anne \| Chneiweiss, Hervé \| Clarke, Angus \| Hashiloni-Dolev, Yael \| Kerasidou, Angeliki \| Lucassen, Anneke \| Parker, Michael \| Patch, Christine \| Prainsack, Barbara \| Raz, Aviad \| Richter, Gesine \| Winkler, Eva	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
A second hotspot for pathogenic exon-skipping variants in CDC45 2024 . Schoch, Kelly \| Ruegg, Mischa S. G. \| Fellows, Bridget J \| Cao, Joseph \| Uhrig, Sabine \| Einsele-Scholz, Stephanie \| Biskup, Saskia \| Hawarden, Samuel R. A. \| Salpietro, Vincenzo \| capra, valeria \| Undiagnosed Diseases Network \| Brown, Chris M. \| Accogli, Andrea \| Shashi, Vandana \| Bicknell, Louise	2024		http://purl.org/ontology/bibo/Article
Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth 2024 . Harms, Frederike Leonie \| Rexach, Jessica Erin \| Efthymiou, Stephanie \| Aynekin, Busra \| Per, Hüseyin \| (Özmen) Güleç, Ayten \| Nampoothiri, Sheela \| Sampaio, Hugo \| Sachdev, Rani \| Stoeva, Radka \| Myers, Kasiani \| Pena, Loren D. M. \| Kalfa, Theodosia \| Chard, Marisa \| Klassen, Megan \| Pries, Megan \| Kutsche, Kerstin	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
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals 2024 . Layo-Carris, Dana \| Lubin, Emily \| Sangree, Annabel \| Clark, Kelly J. \| Durham, Emily L. \| Gonzalez, Elizabeth M. \| Smith, Sarina \| Angireddy, Rajesh \| Wang, Xiao Min \| Weiss, Erin \| Toutain, Annick \| Mendoza-Londono, Roberto \| Dupuis, Lucie \| Damseh, Nadirah \| Velasco, Danita \| Valenzuela, Irene \| Codina-Solà, Marta \| Ziats, Catherine \| Have, Jaclyn \| Clarkson, Lola Kate B. \| Steel, Dora \| Kurian, Manju \| Barwick, Katy \| Carrasco, Diana \| Dagli, Aditi I. \| Nowaczyk, M. J. M. \| Hančárová, Miroslava \| Bendová, Šárka \| Prchalova, Darina \| Sedlacek, Zdenek \| Baxová, Alica \| Nowak, Catherine Bearce \| Douglas, Jessica \| Chung, Wendy \| Longo, Nicola \| Platzer, Konrad \| Klöckner, Chiara \| Averdunk, Luisa \| Wieczorek, Dagmar \| Krey, Ilona \| Zweier, Christiane \| Reis, André \| Balci, Tugce \| Simon, Marleen \| Kroes, Hester Y. \| Wiesener, Antje \| Vasileiou, Georgia \| Marinakis, Nikolaos \| VELTRA, DANAI \| Sofocleous, Christalena \| Kosma, Konstantina \| Traeger-Synodinos, Jan \| Voudris, Konstantinos A. \| Vuillaume, Marie-laure \| Gueguen, Paul \| Derive, Nicolas \| colin, estelle \| Battault, Clarisse \| Au, Billie \| Delatycki, Martin \| Wallis, Mathew \| Gallacher, Lyndon \| Majdoub, Fatma \| Smal, Noor \| Weckhuysen, Sarah \| Schoonjans, An-Sofie \| Kooy, Frank \| Meuwissen, Marije \| Cocanougher, Benjamin T. \| Taylor, Kathryn \| Pizoli, Carolyn E. \| McDonald, Marie T. \| James, Philip \| Roeder, Elizabeth R. \| Littlejohn, Rebecca \| Borja, Nicholas \| Thorson, Willa \| King, Kristine \| Stoeva, Radka \| Suerink, Manon \| Nibbeling, Esther \| Baskin, Stephanie \| Le Guyader, Gwenaël \| Kaplan, Julie \| Muss, Candace \| Carere, Deanna Alexis \| Bhoj, Elizabeth \| Bryant, Laura M.	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

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