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1 Ergebnisse
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The phenotypic spectrum of germline YARS2 variants:from iso..:
Riley, Lisa G
;
Heeney, Matthew M
;
Rudinger-Thirion, Joelle
...
https://research.rug.nl/en/publications/bb95c14c-b1ce-41b6-901f-f2edc38437ee. , 2018
Link:
https://hdl.handle.net/11370/bb95c14c-b1ce-41b6-901f-f..
RT Journal T1
The phenotypic spectrum of germline YARS2 variants:from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
UL https://suche.suub.uni-bremen.de/peid=base-ftunigroningenpu:oai:pure.rug.nl:publications_bb95c14c-b1ce-41b6-901f-f2edc38437ee&Exemplar=1&LAN=DE A1 Riley, Lisa G A1 Heeney, Matthew M A1 Rudinger-Thirion, Joelle A1 Frugier, Magali A1 Campagna, Dean R A1 Zhou, Ronghao A1 Hale, Gregory A A1 Hilliard, Lee M A1 Kaplan, Joel A A1 Kwiatkowski, Janet L A1 Sieff, Colin A A1 Steensma, David P A1 Rennings, Alexander J A1 Simons, Annet A1 Schaap, Nicolaas A1 Roodenburg, Richard J A1 Kleefstra, Tjitske A1 Arenillas, Leonor A1 Fita-Torro, Josep A1 Ahmed, Rasha A1 Abboud, Miguel A1 Bechara, Elie A1 Farah, Roula A1 Tamminga, Rienk Y. J A1 Bottomley, Sylvia S A1 Sanchez, Mayka A1 Huls, Gerwin A1 Swinkels, Dorine W A1 Christodoulou, John A1 Fleming, Mark D YR 2018 K1 TRANSFER-RNA SYNTHETASE K1 MUTATION K1 IDENTIFICATION K1 HETEROGENEITY JF https://research.rug.nl/en/publications/bb95c14c-b1ce-41b6-901f-f2edc38437ee LK http://dx.doi.org/https://hdl.handle.net/11370/bb95c14c-b1ce-41b6-901f-f2edc38437ee DO https://hdl.handle.net/11370/bb95c14c-b1ce-41b6-901f-f2edc38437ee SF ELIB - SuUB Bremen
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