American Journal of Medical Genetics. Part A, 1552-4825

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  1. Genotype-phenotype correlation at codon 1740 ofSETD2

    Rabin, R., Radmanesh, A., Glass, I. A., Dobyns, W. B., Aldinger, K. A., Shieh, J. T., Romoser, S., Bombei, H., Dowsett, L., Trapane, P., Bernat, J. A., Baker, J., Mendelsohn, N. J., Popp, B., Siekmeyer, M., Sorge, I., Sansbury, F. H., Watts, P., Foulds, N. C., Burton, J., Hoganson, G., Hurst, J. A., Menzies, L., Osio, D., Kerecuk, L., Cobben, J. M., Jizi, K., Jacquemont, S., Belanger, S. A., Lohner, K., Veenstra-Knol, H. E., Lemmink, H. H., Keller-Ramey, J., Wentzensen, I. M., Punj, S., McWalter, K., Lenberg, J., Ellsworth, K. A., Radtke, K., Akbarian, S. & Pappas, J., Sep-2020, In : American Journal of Medical Genetics. Part A. 182, 9, p. 2037-2048 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Three-dimensional facial morphology in Cantu syndrome

    Roessler, H. I., Shields, K., Grange, D. K., Knoers, N. V. A. M., van Haaften, G., Hammond, P. & van Haelst, M. M., May-2020, In : American Journal of Medical Genetics. Part A. 182, 5, p. 1041-1052 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

    Donkervoort, S., Mohassel, P., Laugwitz, L., Zaki, M. S., Kamsteeg, E-J., Maroofian, R., Chao, K. R., Verschuuren-Bemelmans, C. C., Horber, V., Fock, A. J. M., McCarty, R. M., Jain, M. S., Biancavilla, V., McMacken, G., Nalls, M., Voermans, N. C., Elbendary, H. M., Snyder, M., Cai, C., Lehky, T. J., Stanley, V., Iannaccone, S. T., Foley, A. R., Lochmueller, H., Gleeson, J., Houlden, H., Haack, T. B., Horvath, R. & Bonnemann, C. G., 10-Aug-2020, In : American Journal of Medical Genetics. Part A. 12 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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