检索结果 - Bird, Lynne M

Angelman syndrome: review of clinical and molecular aspects 由 Bird, Lynne M

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Angelman Syndrome 由 Margolis, Seth S., Sell, Gabrielle L., Zbinden, Mark A., Bird, Lynne M.

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Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study 由 Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.

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An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study 由 Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.

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Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity 由 Hipp, Joerg F., Frohlich, Joel, Keute, Marius, Tan, Wen-Hann, Bird, Lynne M.

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Case of Syndromic Tufting Enteropathy Harbors SPINT2 Mutation seen in Congenital Sodium Diarrhea 由 Sivagnanam, Mamata, Janecke, Andreas R., Müller, Thomas, Heinz-Erian, Peter, Taylor, Sharon, Bird, Lynne M.

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High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome 由 Frohlich, Joel, Bird, Lynne M, Dell’Italia, John, Johnson, Micah A, Hipp, Joerg F, Monti, Martin M

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High-voltage, diffuse delta rhythms coincide with wakeful consciousness and complexity in Angelman syndrome 由 Frohlich, Joel, Bird, Lynne M, Dell’Italia, John, Johnson, Micah A, Hipp, Joerg F, Monti, Martin M

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Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis 由 Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.

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Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis 由 Sidorov, Michael S., Deck, Gina M., Dolatshahi, Marjan, Thibert, Ronald L., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.

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Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study 由 den Bakker, Hanna, Sidorov, Michael S., Fan, Zheng, Lee, David J., Bird, Lynne M., Chu, Catherine J., Philpot, Benjamin D.

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Delta power robustly predicts cognitive function in Angelman syndrome 由 Ostrowski, Lauren M., Spencer, Elizabeth R., Bird, Lynne M., Thibert, Ronald, Komorowski, Robert W., Kramer, Mark A., Chu, Catherine J.

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Clinical characterization of epilepsy in children with Angelman syndrome 由 Cassater, Daiana, Bustamante, Mariana, Sach-Peltason, Lisa, Rotenberg, Alexander, Nespeca, Mark, Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome 由 Han, Julia, Bichell, Terry Jo, Golden, Stephanie, Anselm, Irina, Waisbren, Susan, Bacino, Carlos A., Peters, Sarika U., Bird, Lynne M., Kimonis, Virginia

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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment 由 Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

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Heterozygous WNT1 Variant Causing a Variable Bone Phenotype 由 Alhamdi, Shatha, Lee, Yi-Chien, Chowdhury, Shimul, Byers, Peter H., Gottschalk, Michael, Taft, Ryan J., Joeng, Kyu Sang, Lee, Brendan H., Bird, Lynne M.

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Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants 由 Sadhwani, Anjali, Willen, Jennifer M., Miller, Hillary, Barbieri-Welge, Rene, Horowitz, Lucia T., Noll, Lisa M., Peters, Sarika, Hundley, Rachel, Bird, Lynne M., Tan, Wen-Hann

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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III 由 Sadhwani, Anjali, Wheeler, Anne, Gwaltney, Angela, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann

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Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome 由 Friedman, Jennifer, Bird, Lynne M., Haas, Richard, Robbins, Shira L., Nahas, Shareef A., Dimmock, David P., Yousefzadeh, Matthew J., Witt, Mariah A., Niedernhofer, Laura J., Chowdhury, Shimul

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Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model 由 Willgoss, Tom, Cassater, Daiana, Connor, Siobhan, Krishnan, Michelle L., Miller, Meghan T., Dias-Barbosa, Carla, Phillips, Dawn, McCormack, Julie, Bird, Lynne M., Burdine, Rebecca D., Claridge, Sharon, Bichell, Terry Jo

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