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

Journal

  1. 2020
  2. Rabin, R., Radmanesh, A., Glass, I. A., Dobyns, W. B., Aldinger, K. A., Shieh, J. T., ... Pappas, J. (2020). Genotype-phenotype correlation at codon 1740 ofSETD2. American Journal of Medical Genetics. Part A, 182(9), 2037-2048. https://doi.org/10.1002/ajmg.a.61724
  3. Roessler, H. I., Shields, K., Grange, D. K., Knoers, N. V. A. M., van Haaften, G., Hammond, P., & van Haelst, M. M. (2020). Three-dimensional facial morphology in Cantu syndrome. American Journal of Medical Genetics. Part A, 182(5), 1041-1052. https://doi.org/10.1002/ajmg.a.61517
  4. 2019
  5. Coi, A., Santoro, M., Garne, E., Pierini, A., Addor, M-C., Alessandri, J-L., ... Barisic, I. (2019). Epidemiology of achondroplasia: A population-based study in Europe. American Journal of Medical Genetics. Part A, 179(9), 1791-1798. https://doi.org/10.1002/ajmg.a.61289
  6. Wang, H., Barisic, I., Loane, M., Addor, M-C., Bailey, L. M., Gatt, M., ... Garne, E. (2019). Congenital clubfoot in Europe: A population-based study. American Journal of Medical Genetics. Part A, 179(4), 595-601. https://doi.org/10.1002/ajmg.a.61067
  7. 2018
  8. Terhal, P. A., Verbeek, N. E., Knoers, N., Nievelstein, R. J. A. J., van den Ouweland, A., Sakkers, R. J., ... van Haaften, G. (2018). Further delineation of the GDF6 related multiple synostoses syndrome. American Journal of Medical Genetics. Part A, 176(1), 225-229. https://doi.org/10.1002/ajmg.a.38503
  9. 2017
  10. Wade, E. M., Jenkins, Z. A., Daniel, P. B., Morgan, T., Addor, M. C., Ades, L. C., ... Robertson, S. P. (2017). Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. American Journal of Medical Genetics. Part A, 173(7), 1739-1746. https://doi.org/10.1002/ajmg.a.38267
  11. Baas, A. F., Spiering, W., Moll, F. L., Page-Christiaens, L., Beenakkers, I. C. M., Dooijes, D., ... Sieswerda, G. T. (2017). Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. American Journal of Medical Genetics. Part A, 173(2), 519-523. https://doi.org/10.1002/ajmg.a.38033
  12. 2016
  13. Menke, L. A., van Belzen, M. J., Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., ... DDD Study (2016). CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. American Journal of Medical Genetics. Part A, 170(10), 2681-2693. https://doi.org/10.1002/ajmg.a.37800
  14. Maas, S. M., Vansenne, F., Kadouch, D. J. M., Ibrahim, A., Bliek, J., Hopman, S., ... Hennekam, R. C. (2016). Phenotype, Cancer Risk, and Surveillance in Beckwith-Wiedemann Syndrome Depending on Molecular Genetic Subgroups. American Journal of Medical Genetics. Part A, 170(9), 2248-2260. https://doi.org/10.1002/ajmg.a.37801
  15. Bouman, A., van der Kevie-Kersemaekers, A-M., Huijsdens-van Amsterdam, K., Dahhan, N., Knegt, L., Vansenne, F., & Cobben, J. M. (2016). Trisomy 4 mosaicism: Delineation of the phenotype. American Journal of Medical Genetics. Part A, 170(4), 1040-1045. https://doi.org/10.1002/ajmg.a.37522
  16. 2015
  17. Monroe, G. R., Harakalova, M., van der Crabben, S. N., Majoor-Krakauer, D., Bertoli-Avella, A. M., Moll, F. L., ... Baas, A. F. (2015). Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. American Journal of Medical Genetics. Part A, 167(6), 1196-1203. https://doi.org/10.1002/ajmg.a.36997
  18. Preusser Mattos, E., Anjos da Silva, A., A. Magalhães, J. A., L. Leite, J. C., Leistner-Segal, S., Gus-Kessler, R., ... Vieira Sanseverino, M. T. (2015). Identification of a premature stop codon mutation in the PHGDH gene in severe Neu‐Laxova syndrome—evidence for phenotypic variability. American Journal of Medical Genetics. Part A, 167(6), 1323-1329. https://doi.org/10.1002/ajmg.a.36930
  19. 2014
  20. Oud, M. M., van Bon, B. W., Bongers, E. M. H. F., Hoischen, A., Marcelis, C. L., de Leeuw, N., ... Arts, H. H. (2014). Early presentation of cystic kidneys in a family with a homozygous INVS mutation. American Journal of Medical Genetics. Part A, 164A(7), 1627-1634. https://doi.org/10.1002/ajmg.a.36501
  21. 2013
  22. Barisic, I., Odak, L., Loane, M., Garne, E., Wellesley, D., Calzolari, E., ... Tenconi, R. (2013). Fraser syndrome: epidemiological study in a European population. American Journal of Medical Genetics. Part A, 161A(5), 1012-1018. https://doi.org/10.1002/ajmg.a.35839
  23. 2012
  24. Thompson, M. D., Roscioli, T., Marcelis, C., Nezarati, M. M., Stolte-Dijkstra, I., Sharom, F. J., ... Cole, D. E. C. (2012). Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). American Journal of Medical Genetics. Part A, 158A(3), 553-558. https://doi.org/10.1002/ajmg.a.35202
  25. de Leeuw, K., Goorhuis, J. F., Tielliu, I. F. J., Symoens, S., Malfait, F., de Paepe, A., ... Hulscher, J. B. F. (2012). Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome. American Journal of Medical Genetics. Part A, 158A(3), 626-629. https://doi.org/10.1002/ajmg.a.34420
  26. 2011
  27. de Smith, A. J., van Haelst, M. M., Ellis, R. J., Holder, S. E., Payne, S. J., Hashim, S. K., ... Blakemore, A. I. F. (2011). Chromosome 19p13.3 Deletion in a Patient With Macrocephaly, Obesity, Mental Retardation, and Behavior Problems. American Journal of Medical Genetics. Part A, 155A(5), 1192-1195. https://doi.org/10.1002/ajmg.a.33986
  28. 2010
  29. Shaw, A. C., van Balkom, I. D. C., Bauer, M., Cole, T. R. P., Delrue, M-A., Van Haeringen, A., ... Hennekam, R. C. M. (2010). Phenotype and Natural History in Marshall-Smith Syndrome. American Journal of Medical Genetics. Part A, 152A(11), 2714-2726. https://doi.org/10.1002/ajmg.a.33709
  30. 2009
  31. Konstantinidou, A. E., Fryssira, H., Sifakis, S., Karadimas, C., Kaminopetros, P., Agrogiannis, G., ... Patsouris, E. (2009). Cranioectodermal Dysplasia: A Probable Ciliopathy. American Journal of Medical Genetics. Part A, 149A(10), 2206-2211. https://doi.org/10.1002/ajmg.a.33013
  32. Sousa, S. B., Abdul-Rahman, O. A., Bottani, A., Cormier-Daire, V., Fryer, A., Gillessen-Kaesbach, G., ... Hennekam, R. C. M. (2009). Nicolaides-Baraitser Syndrome: Delineation of the Phenotype. American Journal of Medical Genetics. Part A, 149A(8), 1628-1640. https://doi.org/10.1002/ajmg.a.32956
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