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

Journal

1 - 10 out of 26Page size: 10

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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  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 journal › Article

  14. Published

    Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, Fragile X, Prader-Willi and 1p36 deletion syndromes

    Alice Welham, Johnny Lau, Joanna Moss, Cullen, J., Suzanne Higgs, Gemma Warren, Lucy Wilde, Marr, A., Cook, F. & Chris Oliver, Mar 2015, In : American Journal of Medical Genetics Part A. 167, 3, p. 572-578 7 p.

    Research output: Contribution to journal › Article

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