Resultados da pesquisa - Bird, Lynne M.

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

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Angelman Syndrome Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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 Por 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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