Resultados de procura - Gemma L. Carvill

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  1. 1
    A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

    A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies por Hannah C. Happ, Gemma L. Carvill

    Publicado 2020
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  2. 2
    Poison exons in neurodevelopment and disease

    Poison exons in neurodevelopment and disease por Gemma L. Carvill, Heather C. Mefford

    Publicado 2020
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  3. 3
    Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy

    Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy por Kay-Marie Joan Lamar, Gemma L. Carvill

    Publicado 2018
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  4. 4
    Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy

    Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy por Miriam C. Aziz, Patricia N. Schneider, Gemma L. Carvill

    Publicado 2021
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  5. 5
    A fundamental study of the PCR amplification of GC-rich DNA templates

    A fundamental study of the PCR amplification of GC-rich DNA templates por Tarlan Mamedov, Elsje Pienaar, Scott Whitney, Joel R. TerMaat, Gemma L. Carvill, René Goliath, Anuradha Subramanian, Hendrik J. Viljoen

    Publicado 2008
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  6. 6
    Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

    Copy number variants are frequent in genetic generalized epilepsy with intellectual disability por Saul A. Mullen, Gemma L. Carvill, Susannah T. Bellows, Marta A. Bayly, Samuel F. Berkovic, Leanne M. Dibbens, Ingrid E. Scheffer, Heather C. Mefford

    Publicado 2013
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  7. 7
    Epigenetic genes and epilepsy — emerging mechanisms and clinical applications

    Epigenetic genes and epilepsy — emerging mechanisms and clinical applications por Karen M. J. van Loo, Gemma L. Carvill, Albert J. Becker, Karen Conboy, Alica M. Goldman, Katja Kobow, Íscia Lopes‐Cendes, Christopher A. Reid, Erwin A. van Vliet, David C. Henshall

    Publicado 2022
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  8. 8
    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy

    A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy por Katherine B. Howell, Stefanie Eggers, Kim Dalziel, Jessica R. Riseley, Simone Mandelstam, Candace T. Myers, Jacinta M. McMahon, Amy L. Schneider, Gemma L. Carvill, Heather C. Mefford, Ingrid E. Scheffer, A. Simon Harvey

    Publicado 2018
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  9. 9
    Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

    Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force por Katja Kobow, Christopher A. Reid, Erwin A. van Vliet, Albert J. Becker, Gemma L. Carvill, Alica M. Goldman, Shinichi Hirose, Íscia Lopes‐Cendes, H. Khiari, Annapurna Poduri, Michael R. Johnson, David C. Henshall

    Publicado 2020
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  10. 10
    Parental Mosaicism in “De Novo” Epileptic Encephalopathies

    Parental Mosaicism in “De Novo” Epileptic Encephalopathies por Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

    Publicado 2018
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  11. 11
    A targeted resequencing gene panel for focal epilepsy

    A targeted resequencing gene panel for focal epilepsy por Michael S. Hildebrand, Candace T. Myers, Gemma L. Carvill, Brigid M. Regan, John A. Damiano, Saul A. Mullen, Mark R. Newton, Umesh Nair, Elena V. Gazina, Carol J. Milligan, Christopher A. Reid, Steven Petrou, Ingrid E. Scheffer, Samuel F. Berkovic, Heather C. Mefford

    Publicado 2016
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  12. 12
    Dominant <i>KCNA2</i> mutation causes episodic ataxia and pharmacoresponsive epilepsy

    Dominant <i>KCNA2</i> mutation causes episodic ataxia and pharmacoresponsive epilepsy por Mark Corbett, Susannah T. Bellows, Melody Li, Renée Carroll, Silvana Micallef, Gemma L. Carvill, Candace T. Myers, Katherine B. Howell, Snezana Maljevic, Holger Lerche, Elena V. Gazina, Heather C. Mefford, Melanie Bahlo, Samuel F. Berkovic, Steven Petrou, Ingrid E. Scheffer, Jozef Gécz

    Publicado 2016
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  13. 13
    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i>

    Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene <i><scp>WDR</scp>45</i> por Gemma L. Carvill, Aijie Liu, Simone Mandelstam, Amy L. Schneider, Amy Lacroix, Matthew Zemel, Jacinta M. McMahon, Luis Bello‐Espinosa, Mark T. Mackay, Geoff Wallace, Michaela Waak, Jing Zhang, Cheng Yang, Stephen Malone, Yuehua Zhang, Heather C. Mefford, Ingrid E. Scheffer

    Publicado 2017
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  14. 14
    <i>SCN2A</i> encephalopathy

    <i>SCN2A</i> encephalopathy por Katherine B. Howell, Jacinta M. McMahon, Gemma L. Carvill, Dimira Tambunan, Mark T. Mackay, Victoria Rodriguez‐Casero, Richard F. Webster, Damian Clark, Jeremy L. Freeman, Sophie Calvert, Heather E. Olson, Simone Mandelstam, Annapurna Poduri, Heather C. Mefford, A. Simon Harvey, Ingrid E. Scheffer

    Publicado 2015
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  15. 15
    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

    Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy por Rebecca Truty, Nila Patil, Raman Sankar, Joseph Sullivan, J Gordon Millichap, Gemma L. Carvill, Ali Entezam, Edward D. Esplin, Amy E Fuller, Michelle Hogue, Britt Johnson, Amirah Khouzam, Yuya Kobayashi, Rachel Lewis, Keith Nykamp, Darlene Riethmaier, Jody Westbrook, Michelle K. Zeman, Robert L. Nussbaum, Swaroop Aradhya

    Publicado 2019
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  16. 16
    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy

    Epileptic spasms are a feature of <i>DEPDC5</i> mTORopathy por Gemma L. Carvill, Douglas E. Crompton, Brigid M. Regan, Jacinta M. McMahon, Julia Saykally, Matthew Zemel, Amy L. Schneider, Leanne M. Dibbens, Katherine B. Howell, Simone Mandelstam, Richard J. Leventer, A. Simon Harvey, Saul A. Mullen, Samuel F. Berkovic, Joseph Sullivan, Ingrid E. Scheffer, Heather C. Mefford

    Publicado 2015
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  17. 17
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly por Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Publicado 2018
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  18. 18
    Whole exome sequencing identifies de novo mutations in<i>GATA6</i>associated with congenital diaphragmatic hernia

    Whole exome sequencing identifies de novo mutations in<i>GATA6</i>associated with congenital diaphragmatic hernia por Lan Yu, James T. Bennett, Julia Wynn, Gemma L. Carvill, Yee Him Cheung, Yufeng Shen, George B. Mychaliska, Kenneth S. Azarow, Timothy M. Crombleholme, Dai H. Chung, Douglas A. Potoka, Brad W. Warner, Brian T. Bucher, Foong‐Yen Lim, John B. Pietsch, Charles J.H. Stolar, Guðrún Aspelund, Marc S. Arkovitz, Heather C. Mefford, Wendy K. Chung

    Publicado 2014
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  19. 19
    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

    Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures por Gemma L. Carvill, Jacinta M. McMahon, Amy L. Schneider, Matthew Zemel, Candace T. Myers, Julia Saykally, John Nguyen, Angela Robbiano, Federico Zara, Nicola Specchio, Oriano Mecarelli, Robert L. Smith, Richard J. Leventer, Rikke S. Møller, Marina Nikanorova, Petia Dimova, Albena Jordanova, Steven Petrou, Ingo Helbig, Pasquale Striano, Sarah Weckhuysen, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

    Publicado 2015
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  20. 20
    GRIN2A mutations cause epilepsy-aphasia spectrum disorders

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders por Gemma L. Carvill, Brigid M. Regan, Simone C. Yendle, Brian J. O’Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G. Sadleir, Samantha J. Turner, Meng‐Han Tsai, Richard Webster, Robert Ouvrier, John A. Damiano, Samuel F. Berkovic, Jay Shendure, Michael S. Hildebrand, Pierre Szepetowski, Ingrid E. Scheffer, Heather C. Mefford

    Publicado 2013
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