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Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:
Hengel, Holger
;
Hannan, Shabab B
;
Alzaidan, Hamad
...
info:eu-repo/semantics/altIdentifier/pmid/pmid:34022130. , 2021
Link:
https://pub.dzne.de/record/155888
RT Journal T1
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftdznevdb:oai:pub.dzne.de:155888&Exemplar=1&LAN=DE A1 Hengel, Holger A1 Hannan, Shabab B A1 Alzaidan, Hamad A1 Alsaif, Hessa S A1 Mitani, Tadahiro A1 Bozdogan, Sevcan A1 Pehlivan, Davut A1 Lupski, James R A1 Gleeson, Joseph J A1 Dehghani, Mohammadreza A1 Mehrjardi, Mohammad Y V A1 Sherr, Elliott H A1 Dyack, Sarah A1 Parks, Kendall C A1 Argilli, Emanuela A1 Begtrup, Amber A1 Galehdari, Hamid A1 Balousha, Osama A1 Shariati, Gholamreza A1 Mazaheri, Neda A1 Malamiri, Reza A A1 Pagnamenta, Alistair T A1 Kingston, Helen A1 MacKay, Sara B A1 Banka, Siddharth A1 Jackson, Adam A1 Osmond, Mathew A1 Consortium, Care4Rare Canada A1 Consortium, Genomics England Research A1 Rieß, Angelika A1 Haack, Tobias B A1 Nägele, Thomas A1 Schuster, Stefanie A1 Hauser, Stefan A1 Schatz, Ulrich A1 Admard, Jakob A1 Casadei, Nicolas A1 Velic, Ana A1 Macek, Boris A1 Ossowski, Stephan A1 Houlden, Henry A1 Maroofian, Reza A1 Schöls, Ludger A1 Fleger, Martin A1 Kurringer, Andreas A1 Balousha, Ghassan A1 Ghanim, Zaid A1 Alkuraya, Fowzan S PB Elsevier YR 2021 K1 info:eu-repo/classification/ddc/570 K1 Adolescent K1 Adult K1 Animals K1 Cell Movement K1 Child K1 Preschool K1 Drosophila K1 Female K1 Fibroblasts: metabolism K1 Fibroblasts: pathology K1 Humans K1 Infant K1 Loss of Function Mutation K1 Loss of Heterozygosity K1 Male K1 Mice K1 Knockout K1 Neoplasm Proteins: genetics K1 Neoplasm Proteins: metabolism K1 Neurodevelopmental Disorders: etiology K1 Neurodevelopmental Disorders: metabolism K1 Neurodevelopmental Disorders: pathology K1 Pedigree K1 Proteome: analysis K1 Young Adult K1 BCAS3 K1 UAS-Gal4 K1 fibroblasts K1 global developmental delay K1 microcephaly K1 neurodevelopmental disorder K1 proteomics K1 pyramidal tract involvement K1 thin corpus callosum K1 transcriptomics K1 BCAS3 protein K1 human K1 Neoplasm Proteins K1 Proteome JF info:eu-repo/semantics/altIdentifier/pmid/pmid:34022130 LK http://dx.doi.org/https://pub.dzne.de/record/155888 DO https://pub.dzne.de/record/155888 SF ELIB - SuUB Bremen
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