Sökresultat - Christine M. Stanley

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  1. 1
    Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans

    Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans av Douglas R. Smith, Christine M. Stanley, Theodore Foss, Richard G. Boles, Kevin McKernan

    Publicerad 2017
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  2. 2
    Functional Organization of Human Intraparietal and Frontal Cortex for Attending, Looking, and Pointing

    Functional Organization of Human Intraparietal and Frontal Cortex for Attending, Looking, and Pointing av Serguei V. Astafiev, Gordon L. Shulman, Christine M. Stanley, Abraham Z. Snyder, David C. Van Essen, Maurizio Corbetta

    Publicerad 2003
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  3. 3
    Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

    Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications av Louisa Kalsner, Jennifer Twachtman‐Bassett, Kristin Tokarski, Christine M. Stanley, Thyde Dumont‐Mathieu, Justin Cotney, Stormy J. Chamberlain

    Publicerad 2017
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  4. 4
    Structural anatomy of empathy in neurodegenerative disease

    Structural anatomy of empathy in neurodegenerative disease av Katherine P. Rankin, Maria‐Luisa Gorno‐Tempini, Stephen Allison, Christine M. Stanley, Sigrid S. Glenn, Michael Weiner, Bruce L. Miller

    Publicerad 2006
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  5. 5
    Neural basis of interpersonal traits in neurodegenerative diseases

    Neural basis of interpersonal traits in neurodegenerative diseases av Marc Sollberger, Christine M. Stanley, Stephen M. Wilson, Anett Gyurak, Victoria Beckman, Matthew E. Growdon, Jung Yun Jang, Michael W. Weiner, Bruce L. Miller, Katherine P. Rankin

    Publicerad 2009
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  6. 6
    Neural substrates of socioemotional self‐awareness in neurodegenerative disease

    Neural substrates of socioemotional self‐awareness in neurodegenerative disease av Marc Sollberger, Howard J. Rosen, Tal Shany‐Ur, J ULLAH, Christine M. Stanley, Victor Laluz, Michael W. Weiner, Stephen M. Wilson, Bruce L. Miller, Katherine P. Rankin

    Publicerad 2014
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  7. 7
    Detecting sarcasm from paralinguistic cues: Anatomic and cognitive correlates in neurodegenerative disease

    Detecting sarcasm from paralinguistic cues: Anatomic and cognitive correlates in neurodegenerative disease av Katherine P. Rankin, Andrea Salazar, Maria Luisa Gorno‐Tempini, Marc Sollberger, Stephen M. Wilson, Danijela Pavlic, Christine M. Stanley, Shenly Glenn, Michael W. Weiner, Bruce L. Miller

    Publicerad 2009
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  8. 8
    Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

    Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy av Henrike Heyne, Mykyta Artomov, Florian Battke, Claudia Bianchini, Douglas R. Smith, Nora Liebmann, Vasisht Tadigotla, Christine M. Stanley, Dennis Lal, Heidi L. Rehm, Holger Lerche, Mark J. Daly, Ingo Helbig, Saskia Biskup, Yvonne G. Weber, Johannes R. Lemke

    Publicerad 2019
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  9. 9
    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation av Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel Pineda‐Alvarez, Larry N. Singh, Christine M. Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C. Wallace, Xiaowu Gai, Marni J. Falk

    Publicerad 2020
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  10. 10
    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect

    <i>KCTD7</i> deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect av Kyle Metz, Xinchen Teng, Isabelle Coppens, Heather M. Lamb, Bart Wagner, Jill A. Rosenfeld, Xianghui Chen, Yu Zhang, Hee Jong Kim, Michael E. Meadow, Tim Sen Wang, Edda Haberlandt, Glenn Anderson, Esther Leshinsky‐Silver, Weimin Bi, Thomas C. Markello, Marsha Pratt, Nawal Makhseed, Adolfo D. Garnica, Noelle R. Danylchuk, Thomas Andrew Burrow, Parul Jayakar, Dianalee McKnight, Satish Agadi, Hatha Gbedawo, Christine M. Stanley, Michael Alber, Isabelle Prehl, Katrina Peariso, Min Ong, Santosh Mordekar, Michael Parker, Daniel Crooks, Pankaj B. Agrawal, Gerard T. Berry, Tobias Loddenkemper, Yaping Yang, Gustavo Maegawa, Abdel Aouacheria, Janet Markle, James A. Wohlschlegel, Adam L. Hartman, J. Marie Hardwick

    Publicerad 2018
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  11. 11
    <i>TBC1D24</i> genotype–phenotype correlation

    <i>TBC1D24</i> genotype–phenotype correlation av Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Lüthy, Mattéa J. Finelli, Patrik Verstreken, Aaron L. Cardon, Barbara Gnidovec Stražišar, J. Lloyd Holder, Gaëtan Lesca, Maria Margherita Mancardi, Anne Lise Poulat, Gabriela M. Repetto, Siddharth Banka, Leonilda Bilo, Laura E. Birkeland, Friedrich Bosch, Knut Brockmann, J. Helen Cross, Diane Doummar, Têmis Maria Félix, Fabienne Giuliano, Mutsuki Hori, Irina Hüning, Hulia Kayserili, Usha Kini, Melissa Lees, Girish Meenakshi, Leena Mewasingh, Alistair T. Pagnamenta, Silvio Peluso, Antje Mey, Gregory M. Rice, Jill A. Rosenfeld, Jenny C. Taylor, Matthew M. Troester, Christine M. Stanley, Dorothée Ville, Magdalena Walkiewicz, Antonio Falace, Anna Fassio, Johannes R. Lemke, Saskia Biskup, Jessica Tardif, Norbert Fonya Ajeawung, Aslıhan Tolun, Mark Corbett, Jozef Gécz, Zaid Afawi, Katherine B. Howell, Karen Oliver, Samuel F. Berkovic, Ingrid E. Scheffer, De Falco Fa, Peter L. Oliver, Pasquale Striano, Federico Zara, Philippe M. Campeau, Sanjay M. Sisodiya

    Publicerad 2016
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  12. 12
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change av Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    Publicerad 2023
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  13. 13
    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    <i>GRIN2B</i>encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects av Konrad Platzer, Hongjie Yuan, Hannah M. Schutz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike Heyne, Katherine L. Helbig, Sha Tang, Marcia Willing, Brad T. Tinkle, Darius J. Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M. Strom, Heather C. Mefford, Candace T. Myers, Alison M. Muir, Amy Lacroix, Lynette G. Sadleir, Ingrid E. Scheffer, Eva H. Brilstra, Mieke M. van Haelst, Jasper J. van der Smagt, Levinus A. Bok, Rikke S. Møller, Uffe Birk Jensen, J Gordon Millichap, Anne T. Berg, Ethan M. Goldberg, Isabelle De Bie, Stéphanie Fox, Philippe Major, Julie R. Jones, Elaine H. Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J. Leventer, John A. Lawson, Tony Roscioli, Floor E. Jansen, Emmanuelle Ranza, Christian Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Andrew R. Smith, Christine M. Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen‐Hann Tan, Mark A. Tarnopolsky, Lauren Brady, Markus Wolff, Lutz Dondit, Hélio Pedro, Sarah Parisotto, Kelly L. Jones, Anup D. Patel, David Neal Franz, Rena Vanzo, Elysa Marco, Judith D. Ranells, Nataliya Di Donato, William B. Dobyns, Bodo Laube, Stephen F. Traynelis, Johannes R. Lemke

    Publicerad 2017
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  14. 14
    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

    Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for t... av Marni J. Falk, Li Shen, Michael Gonzalez, Jeremy Leipzig, Marie T. Lott, Alphons P. M. Stassen, Maria Angela Diroma, Daniel Navarro-Gomez, Philip E. Yeske, Renkui Bai, Richard G. Boles, Virginia Brilhante, David Ralph, Jeana T. DaRe, Robert Shelton, Sharon F. Terry, Zhe Zhang, William C. Copeland, Mannis van Oven, Holger Prokisch, Douglas C. Wallace, Marcella Attimonelli, Danuta Krotoski, Stephan Züchner, Xiaowu Gai, Sherri J. Bale, Jirair K. Bedoyan, Doron M. Behar, Penelope E. Bonnen, Lisa Brooks, Claudia Calabrese, Sarah E. Calvo, Patrick F. Chinnery, John Christodoulou, Deanna M. Church, Rosanna Clima, Bruce H. Cohen, Richard G.H. Cotton, I.F.M. de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory M. Enns, Giuseppe Gasparre, Amy Goldstein, Iris L. Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard Haas, Hákon Hákonarson, Michio Hirano, Douglas S. Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth M. McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki, Aurora Pujol, Melissa A. Parisi, Juan C. Perín, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Reddi Honey, Heidi L. Rehm, Erin Rooney Riggs, Richard J. Rodenburg, Yaffa Rubinstein, Russell P. Saneto, Mariangela Santorsola, Curt Scharfe, Claire A. Sheldon, Eric A. Shoubridge, Domenico Simone, H.J.M. Smeets, Jan Smeitink, Christine M. Stanley, Anu Suomalainen, Mark A. Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne A. Wolfe, Lee-Jun Wong

    Publicerad 2014
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