Search Results - "Drazba, Katy"

Descriptive analysis of seizures and comorbidities associated with fragile X syndrome by Albizua, Igor, Charen, Krista, Shubeck, Lisa, Talboy, Amy, Berry‐Kravis, Elizabeth, Kaufmann, Walter E., Stallworth, Jennifer L., Drazba, Katy T., Erickson, Craig A., Sweeney, John A., Tartaglia, Nicole, Warren, Steven F., Hagerman, Randi, Sherman, Stephanie L., Warren, Stephen T., Jin, Peng, Allen, Emily G.

“…Background Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features…”
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Jansen-DeVries Syndrome: Expansion of the PPM1D Clinical and Phenotypic Spectrum in 34 Families by Wojcik, Monica H, Srivastava, Siddharth, Agrawal, Pankaj B, Balci, Tugce B, Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra-Clarke, Marina, Edwards, Matthew, Genetti, Casie A, Grange, Dorothy K, Hickey, Scott E, Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M, Lavillaureix, Alinoe, Lyons, Michael J, Marcelis, Carlo, Marco, Elysa J, Martinez-Agosto, Julian A, Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J, Riberi, Evelise, Rush, Eric T, Russell, Bianca E, Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A, Wilson, Kate, Jansen, Sandra, deVries, Bert B.A., Curry, Cynthia J

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Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families by Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.

“…Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum…”
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