Hasil Pencarian - Monkol Lek

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  1. 1
    Decoding the genetics of rare disease: an interview with Monkol Lek

    Decoding the genetics of rare disease: an interview with Monkol Lek oleh Monkol Lek

    Diterbitkan 2022-06-01
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  2. 2
    Envisioning the next human genome reference

    Envisioning the next human genome reference oleh Monkol Lek, Elaine R. Mardis

    Diterbitkan 2021-12-01
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  3. 3
    Genetic variance in human disease – modelling the future of genomic medicine

    Genetic variance in human disease – modelling the future of genomic medicine oleh Monkol Lek, Julija Hmeljak, Kirsty M. Hooper

    Diterbitkan 2022-06-01
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  4. 4
    Cellular and animal models for facioscapulohumeral muscular dystrophy

    Cellular and animal models for facioscapulohumeral muscular dystrophy oleh Alec M. DeSimone, Justin Cohen, Monkol Lek, Angela Lek

    Diterbitkan 2020-10-01
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  5. 5
    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders

    Editorial: Application of Omics Approaches to the Diagnosis of Genetic Neurological Disorders oleh Andrea Legati, Edoardo Giacopuzzi, Edoardo Giacopuzzi, Marco Spinazzi, Monkol Lek

    Diterbitkan 2021-07-01
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  6. 6
    High-throughput assays to assess variant effects on disease

    High-throughput assays to assess variant effects on disease oleh Kaiyue Ma, Logan O. Gauthier, Frances Cheung, Shushu Huang, Monkol Lek

    Diterbitkan 2024-06-01
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  7. 7
    Translating multiscale research in rare disease

    Translating multiscale research in rare disease oleh Kirsty M. Hooper, Monica J. Justice, Monkol Lek, Karen J. Liu, Katherine A. Rauen

    Diterbitkan 2024-06-01
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  8. 8
    ACTN3 allele frequency in humans covaries with global latitudinal gradient.

    ACTN3 allele frequency in humans covaries with global latitudinal gradient. oleh Scott M Friedlander, Amanda L Herrmann, Daniel P Lowry, Emily R Mepham, Monkol Lek, Kathryn N North, Chris L Organ

    Diterbitkan 2013-01-01
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  9. 9
    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

    Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects oleh James Zou, Gregory Valiant, Paul Valiant, Konrad Karczewski, Siu On Chan, Kaitlin Samocha, Monkol Lek, Shamil Sunyaev, Mark Daly, Daniel G. MacArthur

    Diterbitkan 2016-10-01
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  10. 10
    STRetch: detecting and discovering pathogenic short tandem repeat expansions

    STRetch: detecting and discovering pathogenic short tandem repeat expansions oleh Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S. Clayton, Nigel G. Laing, Daniel G. MacArthur, Alicia Oshlack

    Diterbitkan 2018-08-01
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  11. 11
    Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

    Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism oleh Justin Cohen, Shushu Huang, Katherine E. Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman, Jack L. Arbiser, Katelyn Daman, Monkol Lek, Charles P. Emerson, Alec M. DeSimone

    Diterbitkan 2023-11-01
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  12. 12
    Allelic expression of deleterious protein-coding variants across human tissues.

    Allelic expression of deleterious protein-coding variants across human tissues. oleh Kimberly R Kukurba, Rui Zhang, Xin Li, Kevin S Smith, David A Knowles, Meng How Tan, Robert Piskol, Monkol Lek, Michael Snyder, Daniel G Macarthur, Jin Billy Li, Stephen B Montgomery

    Diterbitkan 2014-05-01
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  13. 13
    Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

    Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease oleh Chao Zhang, Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A. Bell, Ke Dong, Ming Shen Tham, Yiqiang Cai, Zemeng Wei, Felix Behrens, Anton M. Jetten, Hongyu Zhao, Monkol Lek, Stefan Somlo

    Diterbitkan 2024-05-01
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  14. 14
    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

    Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy oleh Elizabeth Harris, Ana Topf, Rita Barresi, Judith Hudson, Helen Powell, James Tellez, Debbie Hicks, Anna Porter, Marta Bertoli, Teresinha Evangelista, Chiara Marini-Betollo, Ólafur Magnússon, Monkol Lek, Daniel MacArthur, Kate Bushby, Hanns Lochmüller, Volker Straub

    Diterbitkan 2017-09-01
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  15. 15
    Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

    Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression oleh Chaozhe Yang, Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun, Monkol Lek, Kristen M. Laricchia, Hanan M. Fathy, Shrikant Mane, Shirlee Shril, Friedhelm Hildebrandt, Lisa M. Guay-Woodford

    Diterbitkan 2021-09-01
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  16. 16
    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness

    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness oleh Katherine Johnson, Ana Töpf, Marta Bertoli, Lauren Phillips, Kristl G. Claeys, Vidosava Rakocevic Stojanovic, Stojan Perić, Andreas Hahn, Paul Maddison, Ela Akay, Alexandra E. Bastian, Anna Łusakowska, Anna Kostera-Pruszczyk, Monkol Lek, Liwen Xu, Daniel G. MacArthur, Volker Straub

    Diterbitkan 2017-11-01
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  17. 17
    Case Report: Two Families With HPDL Related Neurodegeneration

    Case Report: Two Families With HPDL Related Neurodegeneration oleh Ieva Micule, Ieva Micule, Baiba Lace, Baiba Lace, Baiba Lace, Nathan T. Wright, Nicolas Chrestian, Jurgis Strautmanis, Mikus Diriks, Janis Stavusis, Dita Kidere, Elfa Kleina, Anna Zdanovica, Nataly Laflamme, Nadie Rioux, Samarth Thonta Setty, Sander Pajusalu, Sander Pajusalu, Sander Pajusalu, Arnaud Droit, Monkol Lek, Serge Rivest, Inna Inashkina

    Diterbitkan 2022-02-01
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  18. 18
    Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

    Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality oleh Yun Soo Hong, Stephanie L. Battle, Wen Shi, Daniela Puiu, Vamsee Pillalamarri, Jiaqi Xie, Nathan Pankratz, Nicole J. Lake, Monkol Lek, Jerome I. Rotter, Stephen S. Rich, Charles Kooperberg, Alex P. Reiner, Paul L. Auer, Nancy Heard-Costa, Chunyu Liu, Meng Lai, Joanne M. Murabito, Daniel Levy, Megan L. Grove, Alvaro Alonso, Richard Gibbs, Shannon Dugan-Perez, Lukasz P. Gondek, Eliseo Guallar, Dan E. Arking

    Diterbitkan 2023-09-01
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  19. 19
    Exome sequencing in paediatric patients with movement disorders

    Exome sequencing in paediatric patients with movement disorders oleh Anna Ka-Yee Kwong, Mandy Ho-Yin Tsang, Jasmine Lee-Fong Fung, Christopher Chun-Yu Mak, Kate Lok-San Chan, Richard J. T. Rodenburg, Monkol Lek, Shushu Huang, Sander Pajusalu, Man-Mut Yau, Cheung Tsoi, Sharon Fung, Kam-Tim Liu, Che-Kwan Ma, Sheila Wong, Eric Kin-Cheong Yau, Shuk-Mui Tai, Eva Lai-Wah Fung, Nick Shun-Ping Wu, Li-Yan Tsung, Jan Smeitink, Brian Hon-Yin Chung, Cheuk-Wing Fung

    Diterbitkan 2021-01-01
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  20. 20
    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

    A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders oleh Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai-Man Chan, Lydia N. Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis-Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia Lee, Kristen M. Laricchia, Brenda J. Barry, Victoria R. Bradford, Julie A. Jurgens, Eleina M. England, Monkol Lek, Daniel G. MacArthur, Eunjung Alice Lee, Michael E. Talkowski, Harrison Brand, Len A. Pennacchio, Elizabeth C. Engle

    Diterbitkan 2024-09-01
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