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Journal Article
Ehmke, Nadja, Caliebe, Almuth 
ORCID: 0000-0003-2157-425X, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valerie, Wieczorek, Dagmar ORCID: 0000-0003-2812-6492, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmueller, Janine, Fischer-Zirnsak, Bjoern, Knaus, Alexej, Zhu, Na ORCID: 0000-0001-6460-3087, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte ORCID: 0000-0002-0583-4683, Horn, Denise, Komak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nuernberg, Peter, Siebert, Reiner, Manzke, Hermann and Mundlos, Stefan
(2014).
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome.
Am. J. Hum. Genet., 95 (6).
S. 763 - 771.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Ehmke, Nadja, Graul-Neumann, Luitgard, Smorag, Lukasz, Koenig, Rainer, Segebrecht, Lara ORCID: 0000-0002-0939-3213, Magoulas, Pilar, Scaglia, Fernando, Kilic, Esra, Hennig, Anna F., Adolphs, Nicolai, Saha, Namrata, Fauler, Beatrix, Kalscheuer, Vera M., Hennig, Friederike, Altmueller, Janine, Netzer, Christian, Thiele, Holger, Nuernberg, Peter, Yigit, Goekhan, Jaeger, Marten, Hecht, Jochen, Krueger, Ulrike, Mielke, Thorsten, Krawitz, Peter M., Horn, Denise, Schuelke, Markus ORCID: 0000-0003-2824-3891, Mundlos, Stefan, Bacino, Carlos A., Bonnen, Penelope E., Wollnik, Bernd, Fischer-Zirnsak, Bjoern and Kornak, Uwe
(2017).
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Am. J. Hum. Genet., 101 (5).
S. 833 - 844.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
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