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

Journal

Publications

  1. 2018
  2. E-pub ahead of print

    The Characteristics of Temper Outbursts in Prader-Willi Syndrome: Characteristics of PWS outbursts

    Rice, L., Kate Woodcock & EINFELD, STEWART., 5 Oct 2018, In : American Journal of Medical Genetics. Part A. 10 p.

    Research output: Contribution to journalArticle

  3. 2017
  4. Published

    Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature

    Alkhunaizi, E., Schrewe, B., Alizadehfar, R., Vézina, C., Grant Stewart & Braverman, N., Jun 2017, In : American Journal of Medical Genetics. Part A. 173, 6, p. 1514-1520 7 p.

    Research output: Contribution to journalArticle

  5. E-pub ahead of print

    Phenotypes and genotypes in individuals with SMC1A variants

    Huisman, S., Mulder, P. A., Redeker, E., Bader, I., Bisgaard, A-M., Brooks, A., Cereda, A., Cinca, C., Clark, D., Cormier-Daire, V., Deardorff, M. A., Diderich, K., Elting, M., van Essen, A., Patrick, D. F., Gervasini, C., Gillessen-Kaesbach, G., Girisha, K. M., Hilhorst-Hofstee, Y., Hopman, S. & 28 others, Horn, D., Isrie, M., Jansen, S., Jespersgaard, C., Kaiser, F. J., Kaur, M., Kleefstra, T., Krantz, I. D., Lakeman, P., Landlust, A., Lessel, D., Michot, C., Moss, J., Noon, S. E., Chris Oliver, Parenti, I., Pie, J., Ramos, F. J., Rieubland, C., Russo, S., Selicorni, A., Tümer, Z., Vorstenbosch, R., Wenger, T. L., van Balkom, I., Piening, S., Wierzba, J. & Hennekam, R. C., 26 May 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  6. E-pub ahead of print

    Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age

    Joanna Moss, Penhallow, J., Ansari, M., Barton, S., Bourn, D., FitzPatrick, D. R., Goodship, J., Hammond, P., Roberts, C., Welham, A. & Chris Oliver, 19 Apr 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  7. 2016
  8. Published

    Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations

    Pollitt, R. C., Saraff, V., Dalton, A., Emma Webb, Shaw, N., Sobey, G. J., Mughal, M. Z., Hobson, E., Ali, F., Bishop, N. J., Arundel, P., Hoegler, W. & Balasubramanian, M., Dec 2016, In : American Journal of Medical Genetics. Part A. 170, 12, p. 3150-6

    Research output: Contribution to journalArticle

  9. Published

    Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation

    Piret, S. E., Caroline M Gorvin, Trinh, A., Taylor, J., Lise, S., Taylor, J. C., Ebeling, P. R. & Thakker, R. V., 1 Nov 2016, In : American Journal of Medical Genetics. Part A. 170, 11, p. 2988-2992 5 p.

    Research output: Contribution to journalArticle

  10. 2015
  11. Published

    The behavioral characteristics of Sotos syndrome

    Krupa Sheth, Joanna Moss, Hyland, S., Chris Stinton, Cole, T. & Chris Oliver, Dec 2015, In : American Journal of Medical Genetics. Part A. 167, 12, p. 2945-2956 12 p.

    Research output: Contribution to journalArticle

  12. Published

    Behavioral characteristics associated with 19p13.2 microdeletions

    Alice Welham, Barth, B., Joanna Moss, Penhallow, J., Krupa Sheth, Lucy Wilde, Wynn, S. & Chris Oliver, 1 Oct 2015, In : American Journal of Medical Genetics. Part A. 167, 10, p. 2334-2343 10 p.

    Research output: Contribution to journalArticle

  13. Published

    A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health

    Cianfaglione, R., Clarke, A., Kerr, M., Hastings, R. P., Chris Oliver & Felce, D., 1 Jul 2015, In : American Journal of Medical Genetics. Part A. 167, 7, p. 1493-1500 8 p.

    Research output: Contribution to journalArticle

  14. Published
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