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Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals
Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero et al. · Brain · 2021 · 111 citations · Full text
Delineating clinical and developmental outcomes in <i>STXBP1</i>-related disorders
Julie Xian, Kim Marie Thalwitzer, Jillian L. McKee et al. · Brain · 2023 · 28 citations · Full text
A disease concept model for <i>STXBP1</i> ‐related disorders
Katie Rose Sullivan, Sarah M. Ruggiero, Julie Xian et al. · Epilepsia Open · 2023 · 23 citations · Full text
Early life seizures and epileptic spasms in <scp><i>STXBP1</i></scp>‐related disorders
Kim Marie Thalwitzer, Julie Xian, Danielle de Campo et al. · Epilepsia · 2024 · 13 citations · Full text
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