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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
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
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 2024 . Stegmann, Jil Debora \| Kalanithy, Jeshurun C. \| Dworschak, Gabriel C. \| Ishorst, Nina \| Mingardo, Enrico \| Lopes, Filipa M. \| Ho, Yee Mang \| Grote, Phillip \| Lindenberg, Tobias T. \| Yilmaz, Öznur \| Channab, Khadija \| Seltzsam, Steve \| Shril, Shirlee \| Hildebrandt, Friedhelm \| Boschann, Felix \| Heinen, André \| Jolly, Angad \| Myers, Katherine \| McBride, Kim \| Bekheirnia, Mir Reza \| Bekheirnia, Nasim \| Scala, Marcello \| Morleo, Manuela \| Nigro, Vincenzo \| Torella, Annalaura \| TUDP consortium \| Pinelli, Michele \| Capra, Valeria \| Accogli, Andrea \| Maitz, Silvia \| Spano, Alice \| Olson, Rory J. \| Klee, Eric \| Lanpher, Brendan C. \| Jang, Se Song \| Chae, Jong-Hee \| Steinbauer, Philipp \| Rieder, Dietmar \| Janecke, Andreas R. \| Vodopiutz, Julia \| Vogel, Ida \| Blechingberg, Jenny \| Cohen, Jennifer L. \| Riley, Kacie \| Klee, Victoria \| Walsh, Laurence E. \| Begemann, Matthias \| Elbracht, Miriam \| Eggermann, Thomas \| Stoppe, Arzu \| Stuurman, Kyra \| van Slegtenhorst, Marjon \| Barakat, Stefan \| Mulhern, Maureen S. \| Sands, Tristan T. \| Cytrynbaum, Cheryl \| Weksberg, Rosanna \| Isidori, Federica \| Pippucci, Tommaso \| Severi, Giulia \| Montanari, Francesca \| Kruer, Michael \| Bakhtiari, Somayeh \| Darvish, Hossein \| Reutter, Heiko \| Hagelueken, Gregor \| Geyer, Matthias \| Woolf, Adrian Spencer \| Posey, Jennifer \| Lupski, James R. \| Odermatt, Benjamin \| Hilger, Alina Christine	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