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1 Ergebnisse
1
HIDEA syndrome is caused by biallelic, pathogenic, rare or ..:
Kraatari-Tiri, Minna
;
Soikkonen, Leila
;
Myllykoski, Matti Aukusti
...
urn:issn:0009-9163. , 2022
Link:
https://hdl.handle.net/11250/3054757
RT Journal T1
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
UL https://suche.suub.uni-bremen.de/peid=base-ftunivbergen:oai:bora.uib.no:11250_3054757&Exemplar=1&LAN=DE A1 Kraatari-Tiri, Minna A1 Soikkonen, Leila A1 Myllykoski, Matti Aukusti A1 Jamshidi, Yalda A1 Karimiani, Ehsan G A1 Komulainen-Ebrahim, Jonna A1 Kallankari, Hanna A1 Mignot, Cyril A1 Depienne, Christel A1 Keren, Boris A1 Nougues, Marie-Christine A1 Alsahlawi, Zahra A1 Romito, Antonio A1 Martini, Javier A1 Toosi, Mehran B A1 Carroll, Christopher J A1 Tripolszki, Kornelia A1 Bauer, Peter A1 Uusimaa, Johanna A1 Bertoli-Avella, Aida M A1 Koivunen, Peppi A1 Rahikkala, Elisa PB Wiley YR 2022 JF urn:issn:0009-9163 LK http://dx.doi.org/https://hdl.handle.net/11250/3054757 DO https://hdl.handle.net/11250/3054757 SF ELIB - SuUB Bremen
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