Epigenotype–phenotype correlations in Silver–Russell syndrome

por Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M
Publicado 2010

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

por Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P., Cornel, M. C.
Publicado 2015

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

por Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M
Publicado 2018