Hasil Pencarian - Christopher M. Watson

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  1. 1
    Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease

    Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease oleh Lidia Larizza, Christopher M. Watson, Christopher M. Watson, Madelyn A. Gillentine, Palma Finelli, Palma Finelli

    Diterbitkan 2024-10-01
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  2. 2
    Cryoablation versus rib plating: Is the real problem pain control or chest wall instability?

    Cryoablation versus rib plating: Is the real problem pain control or chest wall instability? oleh Jaron H. Butterfield, Laura B. Reparaz, Christopher M. Watson

    Diterbitkan 2023-08-01
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  3. 3
    A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

    A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome. oleh Christopher M Watson, Laura A Crinnion, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ian M Carr, David T Bonthron, Eamonn Sheridan

    Diterbitkan 2016-01-01
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  4. 4
    Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

    Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies oleh Benjamin McClinton, Laura A. Crinnion, Martin McKibbin, Rajarshi Mukherjee, James A. Poulter, Claire E. L. Smith, Manir Ali, Christopher M. Watson, Chris F. Inglehearn, Carmel Toomes

    Diterbitkan 2023-06-01
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  5. 5
    Characterizing hospital workers' willingness to respond to a radiological event.

    Characterizing hospital workers' willingness to respond to a radiological event. oleh Ran D Balicer, Christina L Catlett, Daniel J Barnett, Carol B Thompson, Edbert B Hsu, Melinda J Morton, Natalie L Semon, Christopher M Watson, Howard S Gwon, Jonathan M Links

    Diterbitkan 2011-01-01
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  6. 6
    Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

    Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. oleh Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali

    Diterbitkan 2014-01-01
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  7. 7
    A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.

    A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. oleh Christine P Diggle, Isabel Martinez-Garay, Zoltan Molnar, Martin H Brinkworth, Ed White, Ewan Fowler, Ruth Hughes, Bruce E Hayward, Ian M Carr, Christopher M Watson, Laura Crinnion, Aruna Asipu, Ben Woodman, P Louise Coletta, Alexander F Markham, T Neil Dear, David T Bonthron, Michelle Peckham, Ewan E Morrison, Eamonn Sheridan

    Diterbitkan 2017-01-01
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  8. 8
    A crowdsourced set of curated structural variants for the human genome.

    A crowdsourced set of curated structural variants for the human genome. oleh Lesley M Chapman, Noah Spies, Patrick Pai, Chun Shen Lim, Andrew Carroll, Giuseppe Narzisi, Christopher M Watson, Christos Proukakis, Wayne E Clarke, Naoki Nariai, Eric Dawson, Garan Jones, Daniel Blankenberg, Christian Brueffer, Chunlin Xiao, Sree Rohit Raj Kolora, Noah Alexander, Paul Wolujewicz, Azza E Ahmed, Graeme Smith, Saadlee Shehreen, Aaron M Wenger, Marc Salit, Justin M Zook

    Diterbitkan 2020-06-01
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  9. 9
    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability oleh Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

    Diterbitkan 2023-05-01
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  10. 10
    Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease.

    Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. oleh Minerva M Carrasquillo, Olivia Belbin, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilufer Ertekin-Taner, Morad Ansari, Samantha L Wilcox, Mariah R Kashino, Li Ma, Linda H Younkin, Samuel G Younkin, Curtis S Younkin, Toros A Dincman, Melissa E Howard, Chanley C Howell, Chloe M Stanton, Christopher M Watson, Michael Crump, Veronique Vitart, Caroline Hayward, Nicholas D Hastie, Igor Rudan, Harry Campbell, Ozren Polasek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G Kehoe, David M Mann, A David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V Shane Pankratz, Dennis W Dickson, Neill R Graff-Radford, Ronald C Petersen, Alan F Wright, Steven G Younkin, Kevin Morgan

    Diterbitkan 2010-01-01
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