BCL11B-related disorder in two canadian children: Expanding the clinical phenotype von Prasad, M., Balci, T.B., Prasad, C., Andrews, J.D., Lee, R., Jurkiewicz, M.T., Napier, M.P., Colaiacovo, S., Guillen Sacoto, M.J., Karp, N.

Volltext

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance von Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

Volltext

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

Volltext

Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures von Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

Volltext

The prevalence and phenotypic range associated with biallelic PKDCC variants von Pagnamenta, A.T, Belles, R.S, Salbert, B.A, Wentzensen, I.M, Guillen Sacoto, M.J, Santos, F.J.R, Caffo, A, Ferla, M, Banos‐Pinero, B, Pawliczak, K, Makvand, M, Najmabadi, H, Maroofian, R, Lester, T, Yanez‐Felix, A.L, Villarroel‐Cortes, C.E, Xia, F, Al Fayez, K, Al Hashem, A, Shears, D, Irving, M, Offiah, A.C, Kariminejad, A, Taylor, J.C

Volltext bestellen