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Two novel cases further expand the phenotype of TOR1AIP1-as..:
Lessel, Ivana
;
Chen, Mei-Jan
;
Lüttgen, Sabine
...
https://repository.publisso.de/resource/frl:6469438. , 2020
Link:
https://repository.publisso.de/resource/frl:6469438
RT Journal T1
Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies
UL https://suche.suub.uni-bremen.de/peid=base-ftzbmed:oai:frl.publisso.de:frl:6469438&Exemplar=1&LAN=DE A1 Lessel, Ivana A1 Chen, Mei-Jan A1 Lüttgen, Sabine A1 Arndt, Florian A1 Fuchs, Sigrid A1 Meien, Stefanie A1 Thiele, Holger A1 Jones, Julie R A1 Shaw, Brandon R A1 Crossman, David K A1 Nürnberg, Peter A1 Korf, Bruce R A1 Kubisch, Christian A1 Lessel, Davor YR 2020 K1 Female [MeSH] K1 Protein Isoforms [MeSH] K1 Mitogen-Activated Protein Kinase 1/genetics [MeSH] K1 Adult [MeSH] K1 Humans [MeSH] K1 Nuclear Envelope/genetics [MeSH] K1 Molecular Medicine K1 Loss of Function Mutation [MeSH] K1 HSC70 Heat-Shock Proteins/genetics [MeSH] K1 Original Investigation K1 Male [MeSH] K1 Metabolic Diseases K1 Gene Function K1 Genetic Diseases K1 Inborn/genetics [MeSH] K1 Mitogen-Activated Protein Kinase 3/genetics [MeSH] K1 Human Genetics JF https://repository.publisso.de/resource/frl:6469438 LK http://dx.doi.org/https://repository.publisso.de/resource/frl:6469438 DO https://repository.publisso.de/resource/frl:6469438 SF ELIB - SuUB Bremen
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