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1 Ergebnisse
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Novel insights into PORCN mutations, associated phenotypes ..:
Arlt, Annabelle
;
Kohlschmidt, Nicolai
;
Hentschel, Andreas
...
https://www.repository.cam.ac.uk/handle/1810/334701. , 2022
Link:
https://www.repository.cam.ac.uk/handle/1810/334701
RT Journal T1
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
UL https://suche.suub.uni-bremen.de/peid=base-ftunivcam:oai:www.repository.cam.ac.uk:1810_334701&Exemplar=1&LAN=DE A1 Arlt, Annabelle A1 Kohlschmidt, Nicolai A1 Hentschel, Andreas A1 Bartels, Enrika A1 Groß, Claudia A1 Töpf, Ana A1 Edem, Pınar A1 Szabo, Nora A1 Sickmann, Albert A1 Meyer, Nancy A1 Schara-Schmidt, Ulrike A1 Lau, Jarred A1 Lochmüller, Hanns A1 Horvath, Rita A1 Oktay, Yavuz A1 Roos, Andreas A1 Hiz, Semra PB Springer Science and Business Media LLC; http://dx.doi.org/10.1186/s13023-021-02068-w; Orphanet J Rare Dis YR 2022 K1 Connective tissue disorder K1 ER-stress K1 Fibroblast proteomics K1 Focal dermal hypoplasia K1 Goltz syndrome K1 Lamin a/c K1 Protein-serine O-palmitoleoyltransferase porcupine K1 Acyltransferases K1 Female K1 Humans K1 Male K1 Membrane Proteins K1 Mutation K1 Phenotype JF https://www.repository.cam.ac.uk/handle/1810/334701 LK http://dx.doi.org/https://www.repository.cam.ac.uk/handle/1810/334701 DO https://www.repository.cam.ac.uk/handle/1810/334701 SF ELIB - SuUB Bremen
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