Hasil Pencarian - Cas Simons

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  1. 1
    Orthologous microRNA genes are located in cancer-associated genomic regions in human and mouse.

    Orthologous microRNA genes are located in cancer-associated genomic regions in human and mouse. oleh Igor V Makunin, Michael Pheasant, Cas Simons, John S Mattick

    Diterbitkan 2007-11-01
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  2. 2
    BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS

    BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS oleh Brianna Disanza, Rajesh Angireddy, Emma Welter, Guy Helman, Cas Simons, Ryan Taft, Adeline Vanderver, Elizabeth Bhoj, Rebecca Ahrens-Nicklas

    Diterbitkan 2023-10-01
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  3. 3
    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. oleh Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou

    Diterbitkan 2017-01-01
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  4. 4
    Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm

    Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm oleh Kushani Jayasinghe, Susan M. White, Peter G. Kerr, Duncan MacGregor, Zornitza Stark, Ella Wilkins, Cas Simons, Andrew Mallett, Catherine Quinlan

    Diterbitkan 2019-08-01
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  5. 5
    Utilising polymorphisms to achieve allele-specific genome editing in zebrafish

    Utilising polymorphisms to achieve allele-specific genome editing in zebrafish oleh Samuel J. Capon, Gregory J. Baillie, Neil I. Bower, Jason A. da Silva, Scott Paterson, Benjamin M. Hogan, Cas Simons, Kelly A. Smith

    Diterbitkan 2017-01-01
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  6. 6
    Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation

    Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation oleh Andrew J. Mallett, Catherine Quinlan, Chirag Patel, Lindsay Fowles, Joanna Crawford, Michael Gattas, Richard Baer, Bruce Bennetts, Gladys Ho, Katherine Holman, Cas Simons

    Diterbitkan 2019-09-01
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  7. 7
    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature

    Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature oleh Emma M. J. Passchier, Emma M. J. Passchier, Quinty Bisseling, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Marjo S. van der Knaap, Rogier Min, Rogier Min

    Diterbitkan 2024-02-01
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  8. 8
    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. oleh David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft

    Diterbitkan 2014-01-01
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  9. 9
    Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain

    Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain oleh Dominik Fröhlich, Alexandra K. Suchowerska, Carola Voss, Ruojie He, Ruojie He, Ernst Wolvetang, Georg von Jonquieres, Cas Simons, Thomas Fath, Gary D. Housley, Matthias Klugmann

    Diterbitkan 2018-03-01
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  10. 10
    Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations

    Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations oleh Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patricia Dias, Jeanette Beers, Yongshun Lin, Cas Simons, Ernst Wolvetang, Jizhong Zou, Adeline Vanderver, Michael N. Sack

    Diterbitkan 2022-10-01
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  11. 11
    Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD

    Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD oleh Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J. Cowley, John Shine, Amali Mallawaarachchi

    Diterbitkan 2023-07-01
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  12. 12
    The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology

    The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology oleh Jacqueline Soraru, Sadia Jahan, Sadia Jahan, Catherine Quinlan, Catherine Quinlan, Catherine Quinlan, Catherine Quinlan, Cas Simons, Cas Simons, Louise Wardrop, Louise Wardrop, Rosie O’Shea, Rosie O’Shea, Alasdair Wood, Alasdair Wood, Amali Mallawaarachchi, Amali Mallawaarachchi, Amali Mallawaarachchi, Chirag Patel, Chirag Patel, Zornitza Stark, Zornitza Stark, Zornitza Stark, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett, Andrew John Mallett

    Diterbitkan 2022-05-01
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  13. 13
    ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma

    ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma oleh Kimberly J Morgan, Karen Doggett, Fansuo Geng, Stephen Mieruszynski, Lachlan Whitehead, Kelly A Smith, Benjamin M Hogan, Cas Simons, Gregory J Baillie, Ramyar Molania, Anthony T Papenfuss, Thomas E Hall, Elke A Ober, Didier YR Stainier, Zhiyuan Gong, Joan K Heath

    Diterbitkan 2023-01-01
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  14. 14
    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

    Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy oleh Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon

    Diterbitkan 2018-05-01
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  15. 15
    Genome sequencing in persistently unsolved white matter disorders

    Genome sequencing in persistently unsolved white matter disorders oleh Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver

    Diterbitkan 2020-01-01
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  16. 16
    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease oleh Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

    Diterbitkan 2023-02-01
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