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Journal Article
Becker, Lena-Luise 
ORCID: 0000-0003-4622-8695, Dafsari, Hormos Salimi, Schallner, Jens, Abdin, Dalia, Seifert, Michael, Petit, Florence, Smol, Thomas ORCID: 0000-0002-0119-5896, Bok, Levinus, Rodan, Lance, Krapels, Ingrid, Spranger, Stephanie, Weschke, Bernhard, Johnson, Katherine, Straub, Volker, Kaindl, Angela M., Di Donato, Nataliya ORCID: 0000-0001-9439-4677, von der Hagen, Maja and Cirak, Sebahattin
(2020).
The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification.
J. Hum. Genet., 65 (11).
S. 1003 - 1018.
LONDON:
SPRINGERNATURE.
ISSN 1435-232X
Hartmann, Bianca, Wai, Timothy ORCID: 0000-0002-6770-6222, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Bjoern, Stenzel, Werner, Graef, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F., Huebner, Christoph, Langer, Thomas ORCID: 0000-0003-1250-1462 and Kaindl, Angela M.
(2016).
Homozygous YME1L1 Mutation Causes Mitochondriopathy with Optic Atrophy and Mitochondrial Network Fragmentation.
eLife, 5.
CAMBRIDGE:
ELIFE SCIENCES PUBLICATIONS LTD.
ISSN 2050-084X