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3 Treffer

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
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