 | 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
2016
Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Burfeind, Peter, Reiss, Jochen and Smorag, Lukasz
(2016).
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Hum. Genet., 135 (7).
S. 813 - 827.
NEW YORK:
SPRINGER.
ISSN 1432-1203