American Journal of Human Genetics, 0002-9297

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  1. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

    Balak, C., Benard, M., Schaefer, E., Iqbal, S., Ramsey, K., Ernoult-Lange, M., Mattioli, F., Llaci, L., Geoffroy, V., Courel, M., Naymik, M., Bachman, K. K., Pfundt, R., Rump, P., Ter Beest, J., Wentzensen, I. M., Monaghan, K. G., McWalter, K., Richholt, R., Le Béchec, A., Jepsen, W., De Both, M., Belnap, N., Boland, A., Piras, I. S., Deleuze, J-F., Szelinger, S., Dollfus, H., Chelly, J., Muller, J., Campbell, A., Lal, D., Rangasamy, S., Mandel, J-L., Narayanan, V., Huentelman, M., Weil, D. & Piton, A., 5-Aug-2019, In : American Journal of Human Genetics.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

    Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Theroux, J-F., Jefri, M., Tanti, A., Wu, H., Kolobova, I., Silviera, H., Manzano-Vargas, K., Ehresmann, S., Hamdan, F. F., Hettige, N., Zhang, X., Antonyan, L., Nassif, C., Ghaloul-Gonzalez, L., Sebastian, J., Vockley, J., Begtrup, A. G., Wentzensen, I. M., Crunk, A., Nicholls, R. D., Herman, K. C., Deignan, J. L., Al-Hertani, W., Efthymiou, S., Salpietro, V., Miyake, N., Makita, Y., Matsumoto, N., Ostern, R., Houge, G., Hafstrom, M., Fassi, E., Houlden, H., Wassink-Ruiter, J. S. K., Nelson, D., Goldstein, A., Dabir, T., van Gils, J., Bourgeron, T., Delorme, R., Cooper, G. M., Martinez, J. E., Finnila, C. R., Carmant, L. & Lortie, A., 2-May-2019, In : American Journal of Human Genetics. 104, 5, p. 815-834 20 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome

    Vargas-Poussou, R., Feldmann, D., Vollmer, M., Konrad, M., Kelly, L., van den Heuvel, L. P., Tebourbi, L., Brandis, M., Karolyi, L., Hebert, S. C., Lemmink, H. H., Deschênes, G., Hildebrandt, F., Seyberth, H. W., Guay-Woodford, L. M., Knoers, N. V. & Antignac, C., Jun-1998, In : American Journal of Human Genetics. 62, 6, p. 1332-40 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Hereditary isolated renal magnesium loss maps to chromosome 11q23

    Meij, I. C., Saar, K., van den Heuvel, L. P., Nuernberg, G., Vollmer, M., Hildebrandt, F., Reis, A., Monnens, L. A. & Knoers, N. V., Jan-1999, In : American Journal of Human Genetics. 64, 1, p. 180-8 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

    Vissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., Smeets, D., van Ravenswaaij-Arts, C. M. A., Knoers, N. V., van der Burgt, I., de Jong, P. J., Brunner, H. G., van Kessel, A. G., Schoenmakers, E. F. P. M. & Veltman, J. A., Dec-2003, In : American Journal of Human Genetics. 73, 6, p. 1261-70 10 p.

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