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1 Ergebnisse
1
Bi-allelic LETM1 variants perturb mitochondrial ion homeost..:
Kaiyrzhanov, Rauan
;
Mohammed, Sami E.M
;
Maroofian, Reza
...
https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3Dihub. , 2023
Link:
http://hdl.handle.net/10400.18/8559
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=base-ftinssaudelisboa:oai:repositorio.insa.pt:10400.18_8559&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 A1 Murphy, David A1 Martinelli, Diego A1 Bugiardini, Enrico A1 Allis, Katrina A1 Lamperti, Costanza A1 Reipert, Siegfried A1 Risom, Lotte A1 Laugwitz, Lucia A1 Di Nottia, Michela A1 McFarland, Robert A1 Vilarinho, Laura A1 Hanna, Michael A1 Prokisch, Holger A1 Mayr, Johannes A A1 Bertini, Enrico Silvio A1 Ghezzi, Daniele A1 Østergaard, Elsebet A1 Wortmann, Saskia B A1 Carrozzo, Rosalba A1 Haack, Tobias B A1 Taylor, Robert W A1 Spinazzola, Antonella A1 Nowikovsky, Karin A1 Houlden, Henry PB Elsevier/Cell Press YR 2023 K1 LETM1 K1 Wolf-Hirschhorn Syndrome K1 Genetics K1 Mitochondria K1 Mitochondrial Diseases K1 Neurodegeneration K1 Neurology K1 Oxidative Phosphorylation K1 Potassium Transport K1 Volume Homeostasis K1 Doenças Genéticas JF https://www.sciencedirect.com/science/article/pii/S0002929722003111?via%3Dihub LK http://hdl.handle.net/10400.18/8559 DO http://hdl.handle.net/10400.18/8559 SF ELIB - SuUB Bremen
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