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6 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family 2021 . Carrion-Castillo, Amaia \| B. Estruch, Sara \| Maassen, Ben \| Franke, Barbara \| Francks, Clyde \| Fisher, Simon	2021		http://purl.org/ontology/bibo/Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders 2021 . Mannucci, Ilaria \| Dang, Nghi D. P. \| Huber, Hannes \| Murry, Jaclyn B. \| Abramson, Jeff \| Althoff, Thorsten \| Banka, Siddharth \| Baynam, Gareth \| Bearden, David \| Beleza-Meireles, Ana \| Benke, Paul J. \| Berland, Siren \| Bierhals, Tatjana \| Bilan, Frederic \| Bindoff, Laurence A. \| Braathen, Geir Julius \| Busk, Øyvind L. \| Chenbhanich, Jirat \| Denecke, Jonas \| Escobar, Luis F. \| Estes, Caroline \| Fleischer, Julie \| Groepper, Daniel \| Haaxma, Charlotte A. \| Hempel, Maja \| Holler-Managan, Yolanda \| Houge, Gunnar \| Jackson, Adam \| Kellogg, Laura \| Keren, Boris \| Kiraly-Borri, Catherine \| Kraus, Cornelia \| Kubisch, Christian \| Le Guyader, Gwenael \| Ljungblad, Ulf W. \| Brenman, Leslie Manace \| Martinez-Agosto, Julian A. \| Might, Matthew \| Miller, David T. \| Minks, Kelly Q. \| Moghaddam, Billur \| Nava, Caroline \| Nelson, Stanley F. \| Parant, John M. \| Prescott, Trine \| Rajabi, Farrah \| Randrianaivo, Hanitra \| Reiter, Simone F. \| Schuurs-Hoeijmakers, Janneke \| Shieh, Perry B. \| Slavotinek, Anne \| Smithson, Sarah \| Stegmann, Alexander P. A. \| Tomczak, Kinga \| Tveten, Kristian \| Wang, Jun \| Whitlock, Jordan H. \| Zweier, Christiane \| McWalter, Kirsty \| Juusola, Jane \| Quintero-Rivera, Fabiola \| Fischer, Utz \| Yeo, Nan Cher \| Kreienkamp, Hans-Jürgen \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment 2021 . Bahena, Paulina \| Daftarian, Narsis \| Maroofian, Reza \| Linares, Paola \| Villalobos, Daniel \| Mirrahimi, Mehraban \| Rad, Aboulfazl \| Doll, Julia \| Hofrichter, Michaela A. H. \| Koparir, Asuman \| Röder, Tabea \| Han, Seungbin \| Sabbaghi, Hamideh \| Ahmadieh, Hamid \| Behboudi, Hassan \| Villanueva-Mendoza, Cristina \| Cortés-Gonzalez, Vianney \| Zamora-Ortiz, Rocio \| Kohl, Susanne \| Kuehlewein, Laura \| Darvish, Hossein \| Alehabib, Elham \| Arenas-Sordo, Maria de la Luz \| Suri, Fatemeh \| Vona, Barbara \| Haaf, Thomas	2021		http://purl.org/ontology/bibo/Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males 2021 . Kreienkamp, Hans-Jürgen \| Wagner, Matias \| Weigand, Heike \| McConkie-Rossell, Allyn \| McDonald, Marie \| Keren, Boris \| Mignot, Cyril \| Gauthier, Julie \| Soucy, Jean-François \| Michaud, Jacques L. \| Dumas, Meghan \| Smith, Rosemarie \| Löbel, Ulrike \| Hempel, Maja \| Kubisch, Christian \| Denecke, Jonas \| Campeau, Philippe M. \| Bain, Jennifer M. \| Lessel, Davor	2021		http://purl.org/ontology/bibo/Article
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome 2020 . Ufartes, Roser \| Berger, Hanna \| Till, Katharina \| Salinas, Gabriela \| Sturm, Marc \| Altmüller, Janine \| Nürnberg, Peter \| Thiele, Holger \| Funke, Rudolf \| Apeshiotis, Neophytos \| Langen, Hendrik \| Wollnik, Bernd \| Borchers, Annette \| , Silke	2020		http://purl.org/ontology/bibo/Article
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis 2020 . Ganapathi, Mythily \| Argyriou, Loukas \| Martínez-Azorín, Francisco \| Morlot, Susanne \| Yigit, Gökhan \| Lee, Teresa \| Auber, Bernd \| von Gise, Alexander \| Petrey, Donald S. \| Thiele, Holger \| Cyganek, Lukas \| Sabater-Molina, Maria \| Ahimaz, Priyanka \| Cabezas-Herrera, Juan \| Sorlí García , Moises \| Zibat, Arne \| Siegelin, Markus \| Burfeind, Peter \| Buchovecky, Christie M. \| Hasenfuss, Gerd \| Honig, Barry \| Li, Yun \| Iglesias, Alejandro \| Wollnik, Bernd	2020		http://purl.org/ontology/bibo/Article