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1 Ergebnisse
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Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Ph..:
Magrinelli, Francesca
;
Cali, Elisa
;
Braga, Vinícius Lopes
...
Movement Disorders Clinical Practice. 9 (2022) 2 - p. 218-228 , 2022
Link:
https://doi.org/10.1002/mdc3.13398
RT Journal T1
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mdc3.13398&Exemplar=1&LAN=DE A1 Magrinelli, Francesca A1 Cali, Elisa A1 Braga, Vinícius Lopes A1 Yis, Uluç A1 Tomoum, Hoda A1 Shamseldin, Hanan A1 Raiman, Julian A1 Kernstock, Christoph A1 Rezende Filho, Flávio Moura A1 Barsottini, Orlando Graziani Povoas A1 Taylor, Robert W. A1 Østergaard, Elsebet A1 Tamim, Abdullah A1 Schäferhoff, Karin A1 Sallum, Juliana Maria Ferraz A1 Zaki, Maha S. A1 Kok, Fernando A1 Bhatia, Kailash P. A1 Wissinger, Bernd A1 Sergeant, Kate A1 Haack, Tobias B. A1 Horvath, Rita A1 Hiz, Semra A1 Alkuraya, Fowzan S. A1 Houlden, Henry A1 Pedroso, José Luiz A1 Maroofian, Reza PB Wiley YR 2022 SN 2330-1619 SN 2330-1619 JF Movement Disorders Clinical Practice VO 9 IS 2 SP 218 OP 228 LK http://dx.doi.org/https://doi.org/10.1002/mdc3.13398 DO https://doi.org/10.1002/mdc3.13398 SF ELIB - SuUB Bremen
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