Genetics in Medicine, 1098-3600

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  1. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

    van Rijt, W. J., Jager, E. A., Allersma, D. P., Aktuğlu Zeybek, A. Ç., Bhattacharya, K., Debray, F-G., Ellaway, C. J., Gautschi, M., Geraghty, M. T., Gil-Ortega, D., Larson, A. A., Moore, F., Morava, E., Morris, A. A., Oishi, K., Schiff, M., Scholl-Bürgi, S., Tchan, M. C., Vockley, J., Witters, P., Wortmann, S. B., van Spronsen, F., Van Hove, J. L. K. & Derks, T. G. J., 6-Jan-2020, In : Genetics in Medicine. 9 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

    DDD Study, Dec-2019, In : Genetics in Medicine. 21, 12, p. 2723-2733 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome

    Suerink, M., Rodriguez-Girondo, M., van der Klift, H. M., Colas, C., Brugieres, L., Lavoine, N., Jongmans, M., Capella Munar, G., Evans, D. G., Farrell, M. P., Genuardi, M., Goldberg, Y., Gomez-Garcia, E., Heinimann, K., Hoell, J., Aretz, S., Jasperson, K. W., Kedar, I., Modi, M. B., Nikolaev, S., van Os, T. A. M., Ripperger, T., Rueda, D., Senter, L., Sjursen, W., Sunde, L., Therkildsen, C., Tibiletti, M. G., Trainer, A. H., Vos, Y. J., Wagner, A., Winship, I., Wimmer, K., Zimmermann, S. Y., Vasen, H. F., van Asperen, C. J., Houwing-Duistermaat, J. J., ten Broeke, S. W. & Nielsen, M., Dec-2019, In : Genetics in Medicine. 21, 12, p. 2706-2712 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

    Deciphering Developmental Disorder Study, Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P. R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A-C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Guillen Sacoto, M. J., Schnur, R. E., Zhu, Z., Poisson, A., El Chehadeh, S., Alembik, Y., Bruel, A-L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E. J., Masser-Frye, D., Bird, L. M., Lindstrom, K., Ramsey, K. M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C. G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P. & Gerkes, E. H., 2019, In : Genetics in Medicine. 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

    van der Sluijs, P. J., Jansen, S., Vergano, S. A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Woedl, S., Berry, K., Bijlsma, E. K., Bok, L. A., Brouwer, A. F. J., van der Burgt, I., Campeau, P. M., Canham, N., Chrzanowska, K., Chu, Y. W. Y., Chung, B. H. Y., Dahan, K., De Rademaeker, M., Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E. R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E. H., Grasshoff, U., van Haeringen, A., Heitink, K. R., Herkert, J. C., den Hollander, N. S., Horn, D., Hunt, D., Kant, S. G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L. W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S. & Mancini, G. M. S., Sep-2019, In : Genetics in Medicine. 21, 9, p. 2160-2161 2 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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