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

Tidskrift

Fler filtreringsmöjligheter
  1. 2016
  2. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    Fergelot, P., Van Belzen, M., Van Gils, J., Afenjar, A., Armour, C. M., Arveiler, B., Beets, L., Burglen, L., Busa, T., Collet, M., Deforges, J., de Vries, B. B. A., Dominguez Garrido, E., Dorison, N., Dupont, J., Francannet, C., Garciá-Minaúr, S., Gabau Vila, E., Gebre-Medhin, S., Gener Querol, B. & 33 andra, Geneviève, D., Gérard, M., Gervasini, C. G., Goldenberg, A., Josifova, D., Lachlan, K., Maas, S., Maranda, B., Moilanen, J. S., Nordgren, A., Parent, P., Rankin, J., Reardon, W., Rio, M., Roume, J., Shaw, A., Smigiel, R., Sojo, A., Solomon, B., Stembalska, A., Stumpel, C., Suarez, F., Terhal, P., Thomas, S., Touraine, R., Verloes, A., Vincent-Delorme, C., Wincent, J., Peters, D. J. M., Bartsch, O., Larizza, L., Lacombe, D. & Hennekam, R. C., 2016 dec 1, I : American Journal of Medical Genetics, Part A. 170, 12, s. 3069-3082 14 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. 2014
  4. Novel Association of Neurofibromatosis Type 1-Causing Mutations in Families With Neurofibromatosis-Noonan Syndrome

    Ekvall, S., Sjors, K., Jonzon, A., Mauno Vihinen, Anneren, G. & Bondeson, M-L., 2014, I : American Journal of Medical Genetics. Part A. 164, 3, s. 579-587

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. 2012
  6. Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients

    Sorensen, K. M., El-Segaier, M., Eva Fernlund, Errami, A., Bouvagnet, P., Nehme, N., Steensberg, J., Hjortdal, V., Soller, M., Behjati, M., Werge, T., Kirchoff, M., Schouten, J., Tommerup, N., Andersen, P. S. & Larsen, L. A., 2012, I : American Journal of Medical Genetics. Part A. 158A, 4, s. 720-725

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. 2009
  8. Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus

    Tuysuz, B., Collin, A., Arapoglu, M. & Suyugul, N., 2009, I : American Journal of Medical Genetics. Part A. 149A, 10, s. 2290-2295

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. 2005
  10. PTPN11 mutations play a minor role in isolated congenital heart disease

    Constance G Weismann, Hager, A., Kaemmerer, H., Maslen, C. L., Morris, C. D., Schranz, D., Kreuder, J. & Gelb, B. D., 2005 jul 15, I : American Journal of Medical Genetics. Part A. 136A, 2, s. 146-51 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. 2004
  12. Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation

    Nuber, U., Tinschert, S., Mundlos, S. & Hauber, I., 2004, I : American Journal of Medical Genetics. Part A. 125, 3, s. 261-266

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS).

    Karin Källén, Robert, E., Castilla, E. E., Mastroiacovo, P. & Källén, B., 2004, I : American Journal of Medical Genetics. Part A. 127A, 1, s. 26-34

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift