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1 Ergebnisse
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Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:
Kaiyrzhanov, Rauan
;
Mohammed, Sami E.M.
;
Maroofian, Reza
...
The American Journal of Human Genetics. 109 (2022) 9 - p. 1692-1712 , 2022
Link:
https://doi.org/10.1016/j.ajhg.2022.07.007
RT Journal T1
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2022.07.007&Exemplar=1&LAN=DE A1 Kaiyrzhanov, Rauan A1 Mohammed, Sami E.M. A1 Maroofian, Reza A1 Husain, Ralf A. A1 Catania, Alessia A1 Torraco, Alessandra A1 Alahmad, Ahmad A1 Dutra-Clarke, Marina A1 Grønborg, Sabine A1 Sudarsanam, Annapurna A1 Vogt, Julie A1 Arrigoni, Filippo A1 Baptista, Julia A1 Haider, Shahzad A1 Feichtinger, René G. A1 Bernardi, Paolo A1 Zulian, Alessandra A1 Gusic, Mirjana A1 Efthymiou, Stephanie A1 Bai, Renkui A1 Bibi, Farah A1 Horga, Alejandro A1 Martinez-Agosto, Julian A. A1 Lam, Amanda A1 Manole, Andreea A1 Rodriguez, Diego-Perez A1 Durigon, Romina A1 Pyle, Angela A1 Albash, Buthaina A1 Dionisi-Vici, Carlo PB Elsevier BV YR 2022 SN 0002-9297 JF The American Journal of Human Genetics VO 109 IS 9 SP 1692 OP 1712 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2022.07.007 DO https://doi.org/10.1016/j.ajhg.2022.07.007 SF ELIB - SuUB Bremen
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