![]() | Up a level |
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
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