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Kurzansicht	E-Jahr	Zugriff	Typ	Operations
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses 2024 . UNG, Dévina \| Pietrancosta, Nicolas \| Baz-Badillo, Elena \| Raux, Brigitt \| Tapken, Daniel \| Zlatanovic, Andjela \| Doridant, Adrien \| Pode-Shakked, Ben \| Raas-Rothschild, Annick \| Elpeleg, Orly \| Abu-Libdeh, Bassam \| Hamed, Nasrin \| Papon, Marie-Amélie \| Marouillat, Sylviane \| Thépault, Rose-Anne \| Stevanin, Giovanni \| Elegheert, Jonathan \| Letellier, Mathieu \| Hollmann, Michael \| lambolez, bertrand \| Tricoire, Ludovic \| Toutain, Annick \| HEPP, regine \| Laumonnier, Frédéric	2024		http://purl.org/ontology/bibo/Article
A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing 2024 . Holthöfer, Laura \| Diederich, Stefan \| Haug, Verena \| Lehmann, Lioba \| Hewel, Charlotte \| Paul, Norbert W. \| Schweiger, Susann \| Gerber, Susanne \| Linke, Matthias	2024		http://purl.org/ontology/bibo/Article
Homozygous splice-site variant in ENPP1 underlies generalized arterial calcification of infancy 2024 . Noor Ul Ayan, Hafiza \| Nitschke, Yvonne \| Mughal, Abdul Razzaq \| Thiele, Holger \| Malik, Naveed Altaf \| Hussain, Ijaz \| Haider, Syed Muhammad Ijlal \| Rutsch, Frank \| Erdmann, Jeanette \| Tariq, Muhammad \| Aherrahrou, Zouhair \| Ahmad, Ilyas	2024		http://purl.org/ontology/bibo/Article
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities 2024 . Kakar, Naseebullah \| Mascarenhas, Selinda \| Ali, Asmat \| Ijlal Haider, Syed M. \| Badiger, Vaishnavi Ashok \| Ghofrani, Mobina Shadman \| Kruse, Nathalie \| Hashmi, Sohana Nadeem \| Pozojevic, Jelena \| Balachandran, Saranya \| Toft, Mathias \| Malik, Sajid \| Händler, Kristian \| Fatima, Ambrin \| Iqbal, Zafar \| Shukla, Anju \| Spielmann, Malte \| Radhakrishnan, Periyasamy	2024		http://purl.org/ontology/bibo/Article
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy 2021 . Parenti, Ilaria \| Lehalle, Daphné \| Nava, Caroline \| Torti, Erin \| Leitão, Elsa \| Person, Richard \| Mizuguchi, Takeshi \| Matsumoto, Naomichi \| Kato, Mitsuhiro \| Nakamura, Kazuyuki \| de Man, Stella \| Cope, Heidi \| Shashi, Vandana \| Friedman, Jennifer \| Joset, Pascal \| Steindl, Katharina \| Rauch, Anita \| Muffels, Irena \| van Hasselt, Peter M \| petit, florence \| Smol, Thomas \| Le Guyader, Gwenaël \| Bilan, Frédéric \| Sorlin, Arthur \| Vitobello, Antonio \| PHILIPPE, Christophe \| van de Laar, Ingrid \| van Slegtenhorst, Marjon A. \| Campeau, Philippe \| Au, Ping Yee \| Nakashima, Mitsuko \| Saitsu, Hirotomo \| Yamamoto, Tatsuya \| Nomura, Yumiko \| Louie, Raymond \| Lyons, Michael \| Dobson, Amy \| Plomp, Astrid S. \| Motazacker, M. Mahdi \| Kaiser, Frank J. \| Timberlake, Andrew \| Fuchs, Sabine \| Depienne, Christel \| Mignot, Cyril	2021		http://purl.org/ontology/bibo/Article
Biallelic variants in YRDC cause a developmental disorder with progeroid features 2021 . Schmidt, Julia \| Goergens, Jonas \| Pochechueva, Tatiana \| Kotter, Annika \| Schwenzer, Niko \| Sitte, Maren \| Werner, Gesa \| Altmüller, Janine \| Thiele, Holger \| Nürnberg, Peter \| Isensee, Jörg \| Li, Yun \| Müller, Christian \| Leube, Barbara \| Reinhardt, H. Christian \| Hucho, Tim \| Salinas, Gabriela \| Helm, Mark \| Jachimowicz, Ron D. \| Wieczorek, Dagmar \| Kohl, Tobias \| Lehnart, Stephan E. \| Yigit, Gökhan \| Wollnik, Bernd	2021		http://purl.org/ontology/bibo/Article
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
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
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability 2021 . Haag, Natja \| Tan, Ene-Choo \| Begemann, Matthias \| Buschmann, Lars \| Kraft, Florian \| Holschbach, Petra \| Lai, Angeline H. M. \| Brett, Maggie \| Mochida, Ganeshwaran H. \| DiTroia, Stephanie \| Pais, Lynn \| Neil, Jennifer E. \| Al-Saffar, Muna \| Bastaki, Laila \| Walsh, Christopher \| Kurth, Ingo \| Knopp, Cordula	2021		http://purl.org/ontology/bibo/Article
FUS mutations dominate TBK1 mutations in FUS/TBK1 double-mutant ALS/FTD pedigrees 2021 . Brenner, David \| Müller, Kathrin \| Lattante, Serena \| Yilmaz, Rüstem \| Knehr, Antje \| Freischmidt, Axel \| Ludolph, Albert C. \| Andersen, Peter M. \| Weishaupt, Jochen H.	2021		http://purl.org/ontology/bibo/Article

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