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A novel missense variant in the EML1 gene associated with b..:
Markus, Fenja
;
Kannengießer, Annika
;
Näder, Patricia
...
https://repository.publisso.de/resource/frl:6443902. , 2021
Link:
https://repository.publisso.de/resource/frl:6443902
RT Journal T1
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects
UL https://suche.suub.uni-bremen.de/peid=base-ftzbmed:oai:frl.publisso.de:frl:6443902&Exemplar=1&LAN=DE A1 Markus, Fenja A1 Kannengießer, Annika A1 Näder, Patricia A1 Atigbire, Paul A1 Scholten, Alexander A1 Vössing, Christine A1 Bültmann, Eva A1 Korenke, G. Christoph A1 Owczarek-Lipska, Marta A1 Neidhardt, John YR 2021 K1 Microtubule-Associated Proteins/chemistry [MeSH] K1 Neurodevelopmental Disorders/diagnosis [MeSH] K1 Structure-Activity Relationship [MeSH] K1 Cilia/metabolism [MeSH] K1 DNA Mutational Analysis [MeSH] K1 Mutation K1 Missense [MeSH] K1 Neurodevelopmental Disorders/genetics [MeSH] K1 Protein Conformation [MeSH] K1 Models K1 Molecular [MeSH] K1 Microtubule-Associated Proteins/metabolism [MeSH] K1 Malformations of Cortical Development/diagnosis [MeSH] K1 Male [MeSH] K1 Phenotype [MeSH] K1 Child [MeSH] K1 Fibroblasts/metabolism [MeSH] K1 Malformations of Cortical Development/genetics [MeSH] K1 Genetic Association Studies/methods [MeSH] K1 Genetic Predisposition to Disease [MeSH] K1 Homozygote [MeSH] K1 Consanguinity [MeSH] K1 Brain/diagnostic imaging [MeSH] K1 Neurodevelopmental disorders K1 Brain/abnormalities [MeSH] K1 Humans [MeSH] K1 Exome Sequencing [MeSH] K1 Article K1 Pedigree [MeSH] K1 Alleles [MeSH] K1 Microtubule-Associated Proteins/genetics [MeSH] JF https://repository.publisso.de/resource/frl:6443902 LK http://dx.doi.org/https://repository.publisso.de/resource/frl:6443902 DO https://repository.publisso.de/resource/frl:6443902 SF ELIB - SuUB Bremen
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