Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

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dc.contributor.author Kernstock, Christoph
dc.contributor.author Wissinger, Bernd
dc.contributor.author Schäferhoff, Karin
dc.contributor.author Haack, Tobias
dc.date.accessioned 2023-02-14T07:15:35Z
dc.date.available 2023-02-14T07:15:35Z
dc.date.issued 2022
dc.identifier.issn 2330-1619
dc.identifier.uri http://hdl.handle.net/10900/136501
dc.language.iso en de_DE
dc.publisher Wiley de_DE
dc.relation.uri http://dx.doi.org/10.1002/mdc3.13398 de_DE
dc.subject.ddc 610 de_DE
dc.title Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy de_DE
dc.type Article de_DE
utue.quellen.id 20220728000000_02512
utue.publikation.seiten 218-228 de_DE
utue.personen.roh Magrinelli, Francesca
utue.personen.roh Cali, Elisa
utue.personen.roh Braga, Vinicius Lopes
utue.personen.roh Yis, Uluc
utue.personen.roh Tomoum, Hoda
utue.personen.roh Shamseldin, Hanan
utue.personen.roh Raiman, Julian
utue.personen.roh Kernstock, Christoph
utue.personen.roh Rezende Filho, Flavio Moura
utue.personen.roh Povoas Barsottini, Orlando Graziani
utue.personen.roh Taylor, Robert W.
utue.personen.roh Ostergaard, Elsebet
utue.personen.roh Tamim, Abdullah
utue.personen.roh Schaeferhoff, Karin
utue.personen.roh Ferraz Sallum, Juliana Maria
utue.personen.roh Zaki, Maha S.
utue.personen.roh Kok, Fernando
utue.personen.roh Bhatia, Kailash P.
utue.personen.roh Wissinger, Bernd
utue.personen.roh Sergeant, Kate
utue.personen.roh Haack, Tobias B.
utue.personen.roh Horvath, Rita
utue.personen.roh Hiz, Semra
utue.personen.roh Alkuraya, Fowzan S.
utue.personen.roh Houlden, Henry
utue.personen.roh Pedroso, Jose Luiz
utue.personen.roh Maroofian, Reza
dcterms.isPartOf.ZSTitelID Movement Disorders Clinical Practice de_DE
dcterms.isPartOf.ZS-Issue 2 de_DE
dcterms.isPartOf.ZS-Volume 9 de_DE
utue.fakultaet 04 Medizinische Fakultät de_DE


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