Risultati della ricerca - Ellen Thomas

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  1. 1
    The rise of the genome and personalised medicine

    The rise of the genome and personalised medicine di Helen Brittain, Richard H. Scott, Ellen Thomas

    Pubblicazione 2017
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  2. 2
    NICKEL COMPOUNDS INDUCE HISTONE UBIQUITINATION BY INHIBITING HISTONE DEUBIQUITINATING ENZYME ACTIVITY

    NICKEL COMPOUNDS INDUCE HISTONE UBIQUITINATION BY INHIBITING HISTONE DEUBIQUITINATING ENZYME ACTIVITY di Ke, Qingdong, Ellen, Thomas P., Costa, Max

    Pubblicazione 2007
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  3. 3
    Arsenite alters global histone H3 methylation

    Arsenite alters global histone H3 methylation di Zhou, Xue, Sun, Hong, Ellen, Thomas P., Chen, Haobin, Costa, Max

    Pubblicazione 2008
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  4. 4
    Nickel compounds induce phosphorylation of histone H3 at serine 10 by activating JNK–MAPK pathway

    Nickel compounds induce phosphorylation of histone H3 at serine 10 by activating JNK–MAPK pathway di Ke, Qingdong, Li, Qin, Ellen, Thomas P., Sun, Hong, Costa, Max

    Pubblicazione 2008
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  5. 5
    Heterochromatinization as a Potential Mechanism of Nickel-Induced Carcinogenesis

    Heterochromatinization as a Potential Mechanism of Nickel-Induced Carcinogenesis di Ellen, Thomas P., Kluz, Thomas, Harder, Mark E., Xiong, Judy, Costa, Max

    Pubblicazione 2009
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  6. 6
    A genome-wide deletion mutant screen identifies pathways affected by nickel sulfate in Saccharomyces cerevisiae

    A genome-wide deletion mutant screen identifies pathways affected by nickel sulfate in Saccharomyces cerevisiae di Arita, Adriana, Zhou, Xue, Ellen, Thomas P, Liu, Xin, Bai, Jingxiang, Rooney, John P, Kurtz, Adrienne, Klein, Catherine B, Dai, Wei, Begley, Thomas J, Costa, Max

    Pubblicazione 2009
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  7. 7
    The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

    The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia di Jana Vandrovcová, Ellen Thomas, Santosh S. Atanur, Penny J. Norsworthy, Clare Neuwirth, Yvonne Tan, Dalia Kasperavičiūtė, Jennifer Biggs, Laurence Gamé, Michael Mueller, Anne K. Soutar, Timothy J. Aitman

    Pubblicazione 2013
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  8. 8
    A genome-wide screen in Saccharomyces cerevisiae Reveals Pathways affected By Arsenic Toxicity

    A genome-wide screen in Saccharomyces cerevisiae Reveals Pathways affected By Arsenic Toxicity di Zhou, Xue, Arita, Adriana, Ellen, Thomas P., Liu, Xin, Bai, Jingxiang, Rooney, John P., Kurtz, Adrienne D., Klein, Catherine B., Dai, Wei, Begley, Thomas J., Costa, Max

    Pubblicazione 2009
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  9. 9
    Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

    Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study di Penny J. Norsworthy, Jana Vandrovcová, Ellen Thomas, Archie Campbell, Shona M. Kerr, Jennifer Biggs, Laurence Gamé, Anne K. Soutar, Blair H. Smith, Anna F. Dominiczak, David J. Porteous, Andrew D. Morris, Generation Scotland, Timothy J. Aitman

    Pubblicazione 2014
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  10. 10
    Clinical and genetic variability in children with partial albinism

    Clinical and genetic variability in children with partial albinism di Patrick Campbell, Jamie M. Ellingford, Neil R. A. Parry, Tracy Fletcher, Simon Ramsden, Theodora Gale, Georgina Hall, Katherine R. Smith, Dalia Kasperavičiūtė, Ellen Thomas, Iva Lloyd, Sofia Douzgou, Jill Clayton‐Smith, Susmito Biswas, Jane Ashworth, Graeme Black, Panagiotis I. Sergouniotis

    Pubblicazione 2019
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  11. 11
    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

    Identification and validation of a novel pathogenic variant in <scp><i>GDF2</i></scp> (<scp>BMP9</scp>) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriov... di Srimmitha Balachandar, Tamara Graves, Anika Shimonty, Katie Kerr, Jill Kilner, Sihao Xiao, Richard Slade, Manveer Sroya, Mary Alikian, Emanuel Curetean, Ellen Thomas, Vivienne McConnell, Shane McKee, F. Boardman-Pretty, A. Devereau, Tom Fowler, Mark J. Caulfield, Eric W.F.W. Alton, Teena Ferguson, Julian Redhead, Amy Jayne McKnight, Geraldine Thomas, Micheala A. Aldred, Claire L. Shovlin

    Pubblicazione 2021
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  12. 12
    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

    Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing di Karen Stals, Matthew N. Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela F. Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, Ellen Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard

    Pubblicazione 2017
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  13. 13
    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

    Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution di Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone Leong, Arina Puzriakova, Louise C. Daugherty, S. E. A. Leigh, C. R. Boustred, Olivia Niblock, Antonio Rueda-Martin, О. М. Герасименко, K. Savage, W. A. Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen Brittain, Ellen Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Yang Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh

    Pubblicazione 2021
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  14. 14
    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update

    Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update di Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy J. Hearn, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, S. A. Henderson, Tim Hubbard, Rachel Jackson, Lesley Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, M. Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Sophie Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, Scott Wood, Marc Tischkowitz, Eamonn R. Maher

    Pubblicazione 2022
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  15. 15
    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

    Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease di Omid Sadeghi‐Alavijeh, Melanie Chan, Shabbir H. Moochhala, Sarah Howles, Daniel P. Gale, Detlef Böckenhauer, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Bingyang Shi, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Javier F. Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, D. Perez-Gil, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, K. Savage, Kushmita Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood

    Pubblicazione 2023
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  16. 16
    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis

    Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis di Amelia Shoemark, Helen Griffin, Gabrielle Wheway, Claire Hogg, Jane S. Lucas, Carlos Camps, Jenny C. Taylor, Mary Carroll, Michael R. Loebinger, James D. Chalmers, Deborah Morris‐Rosendahl, Hannah M. Mitchison, Anthony De Soyza, David E. Brown, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, Richard V. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Elyse T. Williams, Katarzyna Witkowska, S. M. Wood

    Pubblicazione 2022
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  17. 17
    Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

    Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping di Prima Sanjaya, Katri Maljanen, Riku Katainen, Sebastian M. Waszak, John C. Ambrose, P. Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, F. Joel Leong, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mónica Pérez‐Gil, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, Afshan Siddiq, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Lauri A. Aaltonen, Oliver Stegle, Jan O. Korbel, Esa Pitkänen

    Pubblicazione 2023
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  18. 18
    Tracking Development of Speech Recognition

    Tracking Development of Speech Recognition di Nae Yuh Wang, Laurie S. Eisenberg, Karen Johnson, Nancy E. Fink, Emily A. Tobey, Alexandra L. Quittner, John K. Niparko, Karen Johnson, Jean L. DesJardin, Melinda Gillinger, William M. Luxford, Amy Martinez, Leslie Visser-Dumont, Carren J. Stika, Sophie E. Ambrose, Dianne Hammes-Ganguly, Jennifer Mertes, Steve Bowditch, Jill Chinnici, Howard W. Francis, Rick Ostrander, Jennifer Yeagle, Nancy Mellon, Mary O.Leary Kane, Sarah Wainscott, Jennifer Wallace, Annelle V. Hodges, Thomas J. Bałkany, Alina Lopez, Leslie Goodwin, Stacy L. Payne, Teresa A. Zwolan, Amy Donaldson, H. Alexander Arts, B P Butler, Hussam El-Kashlam, Krista Heavner, Mary Beth O'Sullivan, Steve A. Telian, Ellen Thomas, Anita Vereb, Carolyn J. Brown, Holly F. B. Teagle, Craig A. Buchman, Carlton J. Zdanski, Hannah Eskridge, Harold C. Pillsbury, Betty Loy, Paul W. Bauer, Angela Boyd, Laura Cantu, Carol Cokely, S Florence, Janee Gisclair, Laura Levitan, Joy Penrad, Shannon Raby, Jamie Rasmus, Peter S. Roland, Heather MacFadyen, Donise Pearson, Deborah M. Rekart, Lauren Sacar, Melissa Sweeney, Linsey S. Wagner, Nicole Weissner, B. Williams, Patricia Bayton, Thelma Vilche, Daniel Habtemariam, Alexandra L. Quittner, Pam Leibach, Ivette Cruz, Noel L. Cohen, Julia L. Evans, Ann E. Geers, Karen Iler Kirk

    Pubblicazione 2008
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  19. 19
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders di Charlie F Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda M. Beaman, Panagiotis I. Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth A. Jones, Jill Clayton‐Smith, Andrew R. Webster, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Christopher A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, K. Witkowsa, S. M. Wood, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme Black, Jamie M. Ellingford

    Pubblicazione 2021
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  20. 20
    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease

    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease di Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai‐Uwe Eckardt, Anthony J. Bleyer, Anna Köttgen, Peter J. Conlon, Michael S. Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst, John C. Ambrose, Paramasivam Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Myles Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Steve Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Miguel Basto-Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Erik A. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki

    Pubblicazione 2022
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