Výsledky vyhledávání - Lynne M. Bird

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  1. 1
    Angelman syndrome: review of clinical and molecular aspects

    Angelman syndrome: review of clinical and molecular aspects Autor Lynne M. Bird

    Vydáno 2014
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  2. 2
    Angelman Syndrome

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

    Vydáno 2015
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  3. 3
    Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

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

    Vydáno 2017
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  4. 4
    Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment

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

    Vydáno 2020
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  5. 5
    Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III

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

    Vydáno 2021
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  6. 6
    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

    Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations Autor Trilochan Sahoo, Carlos A. Bacino, Jennifer R. German, Chad A. Shaw, Lynne M. Bird, Virginia Kimonis, Irinia Anselm, Susan E. Waisbren, Arthur L. Beaudet, Sarika U. Peters

    Vydáno 2007
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  7. 7
    Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model

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

    Vydáno 2020
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  8. 8
    Maladaptive behaviors in individuals with Angelman syndrome

    Maladaptive behaviors in individuals with Angelman syndrome Autor Anjali Sadhwani, Jennifer M. Willen, Nicole LaVallee, Miganush Stepanians, Hillary Miller, Sarika U. Peters, Rene Barbieri‐Welge, Lucia T. Horowitz, Lisa Noll, Rachel J. Hundley, Lynne M. Bird, Wen‐Hann Tan

    Vydáno 2019
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  9. 9
    Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics

    Neural complexity is a common denominator of human consciousness across diverse regimes of cortical dynamics Autor Joel Frohlich, Jeffrey N. Chiang, Pedro A. M. Mediano, Mark Nespeca, Vidya Saravanapandian, Daniel Toker, John Dell’Italia, Joerg F. Hipp, Shafali Jeste, Catherine J. Chu, Lynne M. Bird, Martin M. Monti

    Vydáno 2022
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  10. 10
    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome

    Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome Autor Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

    Vydáno 2014
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  11. 11
    Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes

    Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes Autor Joel Frohlich, Meghan T. Miller, Lynne M. Bird, Pilar Garcés, Hannah Purtell, Marius C. Hoener, Benjamin D. Philpot, Michael S. Sidorov, Wen‐Hann Tan, Maria-Clemencia Hernández, Alexander Rotenberg, Shafali Jeste, Michelle L. Krishnan, Omar Khwaja, Joerg F. Hipp

    Vydáno 2019
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  12. 12
    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

    A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations Autor Jennifer Gentile, Wen‐Hann Tan, Lucia T. Horowitz, Carlos A. Bacino, Steven A. Skinner, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Hye‐Seung Lee, Trilochan Sahoo, Susan E. Waisbren, Lynne M. Bird, Sarika U. Peters

    Vydáno 2010
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  13. 13
    Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection

    Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection Autor Kyla Omilusik, J. Adam Best, Bingfei Yu, Steven Goossens, Alexander Weidemann, Jessica V. Nguyen, Eve Seuntjens, Agata Stryjewska, Christiane Zweier, Rahul Roychoudhuri, Luca Gattinoni, Lynne M. Bird, Yujiro Higashi, Hisato Kondoh, Danny Huylebroeck, Jody J. Haigh, Ananda W. Goldrath

    Vydáno 2015
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  14. 14
    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome

    A therapeutic trial of pro‐methylation dietary supplements in Angelman syndrome Autor Lynne M. Bird, Wen‐Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Kriti Mohan, Mark Nespeca, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Arthur L. Beaudet

    Vydáno 2011
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  15. 15
    Angelman syndrome: Mutations influence features in early childhood

    Angelman syndrome: Mutations influence features in early childhood Autor Wen‐Hann Tan, Carlos A. Bacino, Steven A. Skinner, Irina Anselm, Rene Barbieri‐Welge, Astrid Bauer‐Carlin, Arthur L. Beaudet, Terry Jo Bichell, Jennifer Gentile, Daniel G. Glaze, Lucia T. Horowitz, Sanjeev V. Kothare, Hye‐Seung Lee, Mark Nespeca, Sarika U. Peters, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren, Lynne M. Bird

    Vydáno 2010
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  16. 16
    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

    Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Autor Cinthya Zepeda‐Mendoza, Jonas Ibn-Salem, Tammy Kammin, David J. Harris, Debra Rita, Karen W. Gripp, Jennifer MacKenzie, Andrea Gropman, Brett H. Graham, Ranad Shaheen, Fowzan S. Alkuraya, Campbell K. Brasington, Edward J. Spence, Diane Masser‐Frye, Lynne M. Bird, Erica Spiegel, Rebecca Sparkes, Zehra Ordulu, Michael E. Talkowski, Miguel A. Andrade‐Navarro, Peter N. Robinson, Cynthia C. Morton

    Vydáno 2017
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  17. 17
    Effects of <scp>MetAP2</scp> inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial

    Effects of <scp>MetAP2</scp> inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial Autor Shawn E. McCandless, Jack A. Yanovski, Jennifer Miller, Cary Fu, Lynne M. Bird, Parisa Salehi, Christine L. Chan, Diane Stafford, M. Jennifer Abuzzahab, David Viskochil, Sarah E. Barlow, Moris Angulo, S Myers, Barbara Y. Whitman, Dennis M. Styne, Elizabeth Roof, Elisabeth M. Dykens, Ann Scheimann, Jaret Malloy, Dongliang Zhuang, Kristin Taylor, Thomas E. Hughes, Dennis Dong Hwan Kim, Merlin G. Butler

    Vydáno 2017
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  18. 18
    Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes

    Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes Autor Olivia J. Veatch, Beth A. Malow, Hye‐Seung Lee, Aryn Knight, Judy O. Barrish, Jeffrey L. Neul, Jane B. Lane, Steven A. Skinner, Walter E. Kaufmann, Jennifer Miller, Daniel J. Driscoll, Lynne M. Bird, Merlin G. Butler, Elisabeth M. Dykens, June‐Anne Gold, Virginia Kimonis, Carlos A. Bacino, Wen‐Hann Tan, Sanjeev V. Kothare, Sarika U. Peters, Alan K. Percy, Daniel G. Glaze

    Vydáno 2021
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  19. 19
    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

    Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency Autor Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey Swensen, W. Evan Johnson, Barry Moore, Chad D. Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi D. Fain, Reid Robison, Brian K. Dalley, Steven S. Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hákon Hákonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon

    Vydáno 2011
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  20. 20
    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

    De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures Autor Candace T. Myers, Nicholas Stong, Emily Mountier, Katherine L. Helbig, Saskia Freytag, Joseph Sullivan, Bruria Ben Zeev, Andreea Nissenkorn, Michal Tzadok, Gali Heimer, Deepali N. Shinde, Arezoo Rezazadeh, Brigid M. Regan, Karen Oliver, Michelle Ernst, Natalie Lippa, Maureen Mulhern, Zhong Ren, Annapurna Poduri, Danielle M. Andrade, Lynne M. Bird, Melanie Bahlo, Samuel F. Berkovic, Daniel H. Lowenstein, Ingrid E. Scheffer, Lynette G. Sadleir, David B. Goldstein, Heather C. Mefford, Erin L. Heinzen

    Vydáno 2017
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