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1Academic Journal
المؤلفون: Averdunk, L., Al-Thihli, K., Surowy, H., Lüdecke, H.J., Drechsler, M., Yigit, G., Smorag, L., Hallak, B.A., Li, Y., Altmüller, J., Guthoff, T., Wallot, M., Nürnberg, P., Wollnik, B., Abou Jamra, R., Al-Maawali, A., Wieczorek, D.
مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; other
Relation: http://edoc.mdc-berlin.de/23007/1/23007oa.pdf; http://edoc.mdc-berlin.de/23007/7/23007suppl.zip; Expanding the spectrum of EEF1D neurodevelopmental disorders: biallelic variants in the guanine exchange domain. Averdunk, L. and Al-Thihli, K. and Surowy, H. and Lüdecke, H.J. and Drechsler, M. and Yigit, G. and Smorag, L. and Hallak, B.A. and Li, Y. and Altmüller, J. and Guthoff, T. and Wallot, M. and Nürnberg, P. and Wollnik, B. and Abou Jamra, R. and Al-Maawali, A. and Wieczorek, D. Clinical Genetics 103 (4): 484-491. April 2023
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2Academic Journal
المؤلفون: Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P., Horn, D., Schuelke, M., Mundlos, S., Bacino, C., Bonnen, P., Wollnik, B., Fischer-Zirnsak, B., Kornak, U.
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pissn/1537-6605 (Electronic)0002-9297 (Print); http://hdl.handle.net/21.11116/0000-0000-CE88-F; http://hdl.handle.net/21.11116/0000-0000-CE8A-D