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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome 2024 . D’Abrusco, Fulvio \| Serpieri, Valentina \| Taccagni, Cecilia Maria \| Garau, Jessica \| Cattaneo, Luca \| Boggioni, Monica \| Gana, Simone \| Battini, Roberta \| Bertini, Enrico \| Zanni, Ginevra \| Boltshauser, Eugen \| Borgatti, Renato \| Romaniello, Romina \| Signorini, Sabrina \| Leuzzi, Vincenzo \| Caputi, Caterina \| Manti, Filippo \| D’Arrigo, Stefano \| De Laurentiis, Arianna \| Graziano, Claudio \| Lemke, Johannes \| Morelli, Federica \| Petković Ramadža, Danijela \| Sirchia, Fabio \| Giorgio, Elisa \| Valente, Enza Maria	2024		http://purl.org/ontology/bibo/Article
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract 2024 . Kesdiren, Esra \| Martens, Helge \| Brand, Frank \| Werfel, Lina \| Wedekind, Lukas \| Trowe, Mark-Oliver \| Schmitz, Jessica \| Hennies, Imke \| Geffers, Robert \| Gucev, Zoran \| Seeman, Tomáš \| Schmidt, Sonja \| Tasic, Velibor \| Fasano, Laurent \| Bräsen, Jan H. \| Kispert, Andreas \| Christians, Anne \| Haffner, Dieter \| Weber, Ruthild	2024		http://purl.org/ontology/bibo/Article
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy 2024 . Sajan, Samin A. \| Gradisch, Ralph \| Vogel, Florian D. \| Coffey, Alison \| Salyakina, Daria \| Soler, Diana \| Jayakar, Parul \| Jayakar, Anuj \| Bianconi, Simona E. \| Cooper, Annina H. \| Liu, Shuxi \| William, Nancy \| Benkel-Herrenbrück, Ira \| Maiwald, Robert \| Heller, Corina \| Biskup, Saskia \| Leiz, Steffen \| Westphal, Dominik Sebastian \| Wagner, Matias \| Clarke, Amy \| Stockner, Thomas \| Ernst, Margot \| Kesari, Akanchha \| Krenn, Martin	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
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
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
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
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
Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders 2021 . Klau, Julia \| Abou Jamra, Rami \| Radtke, Maximilian \| Oppermann, Henry \| Lemke, Johannes \| Beblo, Skadi \| Popp, Bernt	2021		http://purl.org/ontology/bibo/Article

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