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GENOME RES

Bibliographical data

ISSNs1088-9051
Electronic ISSN 1549-5469

Publications

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D. G., Harabula, I., Flöttmann, R., Horn, D., Chan, W. L., Wittler, L., Yilmaz, R., Altmüller, J., Thiele, H., van Bokhoven, H., Schwartz, C. E., Nürnberg, P., Bowie, J. U., Ahmad, J., Kubisch, C., Mundlos, S. & Borck, G., 02.2016, In: GENOME RES. 26, 2, p. 183-91 9 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies
Borck, G., Hög, F., Dentici, M. L., Tan, P. L., Sowada, N., Medeira, A., Gueneau, L., Thiele, H., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T. L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D. J., Altmüller, J., Reymond, A., Nürnberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P. & Kubisch, C., 02.2015, In: GENOME RES. 25, 2, p. 155-66 12 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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