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

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  1. 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

  2. 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

  3. 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

  4. Congenital clubfoot in Europe: A population-based study

    Wang, H., Barisic, I., Loane, M., Addor, M-C., Bailey, L. M., Gatt, M., Klungsoyr, K., Mokoroa, O., Nelen, V., Neville, A. J., O'Mahony, M., Pierini, A., Rissmann, A., Verellen-Dumoulin, C., de Walle, H. E. K., Wiesel, A., Wisniewska, K., de Jong-van den Berg, L. T. W., Dolk, H., Khoshnood, B. & Garne, E., Apr-2019, In : American Journal of Medical Genetics. Part A. 179, 4, p. 595-601 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

    Rodan, L. H., Anyane-Yeboa, K., Chong, K., Wassink-Ruiter, J. S. K., Wilson, A., Smith, L., Kothare, S. V., Rajabi, F., Blaser, S., Ni, M., DeBerardinis, R. J., Poduri, A. & Berry, G. T., Dec-2018, In : American Journal of Medical Genetics. Part A. 176, 12, p. 2554-2560 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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