Search Results - Wentzensen, I.M.

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  1. 1
    Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

    Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance by 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.

    Published in Clinical genetics
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  2. 2
    Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

    Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures by 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.

    Published in Clinical genetics
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  3. 3
    Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

    Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome by Vivero, M., Cho, M.T., Begtrup, A., Wentzensen, I.M., Walsh, L., Payne, K., Zarate, Y.A., Bosanko, K., Schaefer, G.B., DeBrosse, S., Pollack, L., Mason, K., Retterer, K., DeWard, S., Juusola, J., Chung, W.K.

    Published in Clinical genetics
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  4. 4
    Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures

    Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures by 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.

    Published in Clinical genetics
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