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Number of items: 2.

Journal Article

Alston, Charlotte L., Heidler, Juliana, Dibley, Marris G., Kremer, Laura S., Taylor, Lucie S., Fratter, Carl, French, Courtney E., Glasgow, Ruth I. C., Feichtinger, Rene G., Delon, Isabelle, Pagnamenta, Alistair T., Dolling, Helen, Lemonde, Hugh, Aiton, Neil ORCID: 0000-0001-9762-1169, Bjornstad, Alf, Henneke, Lisa, Gaertner, Jutta, Thiele, Holger, Tauchmannova, Katerina ORCID: 0000-0002-3745-8790, Quaghebeur, Gerardine, Houstek, Josef ORCID: 0000-0002-8413-4772, Sperl, Wolfgang, Raymond, F. Lucy, Prokisch, Holger, Mayr, Johannes A., McFarland, Robert ORCID: 0000-0002-8833-2688, Poulton, Joanna ORCID: 0000-0002-2460-5587, Ryan, Michael T., Wittig, Ilka, Henneke, Marco and Taylor, Robert W. (2018). Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am. J. Hum. Genet., 103 (4). S. 592 - 602. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schroeder, Simone, Li, Yun, Yigit, Gokhan, Altmueller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Korenke, G. Christoph, Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd and Brockmann, Knut . Heterozygous truncating variants inSUFUcause congenital ocular motor apraxia. Genet. Med.. LONDON: SPRINGERNATURE. ISSN 1530-0366

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