 | Up a level |
2017
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
2014
Zemojtel, Tomasz, koehler, Sebastian, Mackenroth, Luisa, Jaeger, Marten, Hecht, Jochen, Krawitz, Peter, Graul-Neumann, Luitgard, Doelken, Sandra, Ehmke, Nadja, Spielmann, Malte ORCID: 0000-0002-0583-4683, Oien, Nancy Christine, Schweiger, Michal R., Krueger, Ulrike, Frommer, Goetz, Fischer, Bjoern, Kornak, Uwe, Floettmann, Ricarda, Ardeshirdavani, Amin ORCID: 0000-0002-7226-7324, Moreau, Yves, Lewis, Suzanna E., Haendel, Melissa, Smedley, Damian, Horn, Denise, Mundlos, Stefan and Robinson, Peter N.
(2014).
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.
Sci. Transl. Med., 6 (252).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 1946-6242