Search Results - Richholt, R. F.

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  1. 1
    A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus

    A de novo splice site mutation in CASK causes FG syndrome‐4 and congenital nystagmus by Dunn, P., Prigatano, G. P., Szelinger, S., Roth, J., Siniard, A. L., Claasen, A. M., Richholt, R. F., De Both, M., Corneveaux, J. J., Moskowitz, A. M., Balak, C., Piras, I. S., Russell, M., Courtright, A. L., Belnap, N., Rangasamy, S., Ramsey, K., Opitz, J. M., Craig, D. W., Narayanan, V., Huentelman, M. J., Schrauwen, I.

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  2. 2
    Exploring genome-wide DNA methylation patterns in Aicardi syndrome

    Exploring genome-wide DNA methylation patterns in Aicardi syndrome by Piras, Ignazio S, Mills, Gabrielle, Llaci, Lorida, Naymik, Marcus, Ramsey, Keri, Belnap, Newell, Balak, Chris D, Jepsen, Wayne M, Szelinger, Szabolcs, Siniard, Ashley L, Lewis, Candace R, LaFleur, Madison, Richholt, Ryan F, De Both, Matt D, Avela, Kristiina, Rangasamy, Sampathkumar, Craig, David W, Narayanan, Vinodh, Järvelä, Irma, Huentelman, Matthew J, Schrauwen, Isabelle

    Published in Epigenomics
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