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

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  1. Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis

    Goel, N., Morris, J. K., Tucker, D., de Walle, H. E. K., Bakker, M. K., Kancherla, V., Marengo, L., Canfield, M. A., Kallen, K., Lelong, N., Camelo, J. L., Stallings, E. B., Jones, A. M., Nance, A., My-Phuong Huynh, Martinez-Fernandez, M-L., Sipek, A., Pierini, A., Nembhard, W. N., Goetz, D., Rissmann, A., Groisman, B., Luna-Munoz, L., Szabova, E., Lapchenko, S., Zarante, I., Hurtado-Villa, P., Martinez, L. E., Tagliabue, G., Landau, D., Gatt, M., Dastgiri, S. & Morgan, M., 30-Sep-2019, In : American Journal of Medical Genetics. Part A. 11 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Epidemiology of achondroplasia: A population-based study in Europe

    Coi, A., Santoro, M., Garne, E., Pierini, A., Addor, M-C., Alessandri, J-L., Bergman, J. E. H., Bianchi, F., Boban, L., Braz, P., Cavero-Carbonell, C., Gatt, M., Haeusler, M., Klungsoyr, K., Kurinczuk, J. J., Lanzoni, M., Lelong, N., Luyt, K., Mokoroa, O., Mullaney, C., Nelen, V., Neville, A. J., O'Mahony, M. T., Perthus, I., Rankin, J., Rissmann, A., Rouget, F., Schaub, B., Tucker, D., Wellesley, D., Wisniewska, K., Zymak-Zakutnia, N. & Barisic, I., Sep-2019, In : American Journal of Medical Genetics. Part A. 179, 9, p. 1791-1798 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

    Penders, B., Dijk, D. R., Bocca, G., Zimmermann, L. J. I., van Ravenswaaij-Arts, C. M. A. & Gerver, W-J. M., Aug-2019, In : American Journal of Medical Genetics. Part A. 179, 8, p. 1459-1465 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability

    Preusser Mattos, E., Anjos da Silva, A., A. Magalhães, J. A., L. Leite, J. C., Leistner-Segal, S., Gus-Kessler, R., Adams Perez, J., M. Vedolin, L., Torreblanca-Zanca, A., Lapunzina, P., L. Ruiz-Perez, V. & Vieira Sanseverino, M. T., 5-Apr-2015, In : American Journal of Medical Genetics. Part A. 167, 6, p. 1323-1329 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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