Fachrepositorium Lebenswissenschaften

2 Treffer

Kurzansicht	E-Jahr	Zugriff	Typ	Operations
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
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects 2021 . Markus, Fenja \| Kannengießer, Annika \| Näder, Patricia \| Atigbire, Paul \| Scholten, Alexander \| Vössing, Christine \| Bültmann, Eva \| Korenke, G. Christoph \| Owczarek-Lipska, Marta \| Neidhardt, John	2021		http://purl.org/ontology/bibo/Article

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