Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Archer, L."'
Autor:
Wai, Htoo A, Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G, Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N Simon, Bunyan, David J, Douglas, Andrew G L, Baralle, Diana, Naik, Swati, Ragge, Nicola, Cox, Helen, Morton, Jenny E., O'Driscoll, Mary, Lim, Derek, Osio, Deborah, Elmslie, Frances, Huber, Camilla, Hewitt, Julie, Brandon, Heidy, McEntagart, Meriel, Mansour, Sahar, Lahiri, Nayana, Dempsey, Esther, Manalo, Merrie, Homfray, Tessa, Saggar, Anand, Li, Jin, Barwell, Julian, Chandler, Kate E., Briggs, Tracy, Douzgou, Sofia, Adlard, Julian, Kraus, Alison, Mehta, Sarju, Watford, Amy, Donaldson, Alan, Low, Karen, Jones, Gabriela, Dixit, Abhijit, King, Elizabeth, Shannon, Nora, Kaliakatsos, Marios, Joss, Shelagh, Balasubramanian, Meena, Johnson, Diana, Everest, Sarah, Salter, Claire, Harrison, Victoria, Wise, Gillian, Torokwa, Audrey, Sands, Victoria, Pyle, Esther, Thomas, Tessy, Lachlan, Katherine, Foulds, Nicola, Lotery, Andrew, Hammans, Simon R., Pond, Emily, Horton, Rachel, Kharbanda, Mira, Hunt, David, Thomas, Charlene, Side, Lucy, Willis, Catherine, Greville-Heygate, Stephanie, Mawby, Rebecca, Mercer, Catherine, Temple, Karen, Kinning, Esther, Bojovic, Ognjen, Archer, L.
Publikováno v:
Genetics in Medicine
Wai, H A, Lord, J, Lyon, M, Gunning, A, Kelly, H, Cibin, P, Seaby, E G, Spiers-Fitzgerald, K, Lye, J, Ellard, S, Thomas, N S, Bunyan, D J, Douglas, A G L, Baralle, D, Splicing and disease working group, Naik, S, Ragge, N, Cox, H, Morton, J E, O'Driscoll, M, Lim, D, Osio, D, Elmslie, F, Huber, C, Hewitt, J, Brandon, H, McEntagart, M, Mansour, S, Lahiri, N, Dempsey, E, Manalo, M, Homfray, T, Saggar, A, Li, J, Barwell, J, Chandler, K E, Briggs, T, Douzgou, S, Adlard, J, Kraus, A, Mehta, S, Watford, A, Donaldson, A, Low, K, Jones, G, Dixit, A, King, E, Shannon, N, Kaliakatsos, M, Manalo, M, Joss, S, Balasubramanian, M, Johnson, D, Everest, S, Salter, C, Harrison, V, Wise, G, Torokwa, A, Sands, V, Pyle, E, Thomas, T, Lachlan, K, Foulds, N, Lotery, A, Douglas, A G L, Hammans, S R, Pond, E, Horton, R, Kharbanda, M, Hunt, D, Thomas, C, Side, L, Willis, C, Greville-Heygate, S, Mawby, R, Mercer, C, Temple, K, Kinning, E, Bojovic, O & Archer, L 2020, ' Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 6, pp. 1005-1014 . https://doi.org/10.1038/s41436-020-0766-9
Wai, H A, Lord, J, Lyon, M, Gunning, A, Kelly, H, Cibin, P, Seaby, E G, Spiers-Fitzgerald, K, Lye, J, Ellard, S, Thomas, N S, Bunyan, D J, Douglas, A G L, Baralle, D, Splicing and disease working group, Naik, S, Ragge, N, Cox, H, Morton, J E, O'Driscoll, M, Lim, D, Osio, D, Elmslie, F, Huber, C, Hewitt, J, Brandon, H, McEntagart, M, Mansour, S, Lahiri, N, Dempsey, E, Manalo, M, Homfray, T, Saggar, A, Li, J, Barwell, J, Chandler, K E, Briggs, T, Douzgou, S, Adlard, J, Kraus, A, Mehta, S, Watford, A, Donaldson, A, Low, K, Jones, G, Dixit, A, King, E, Shannon, N, Kaliakatsos, M, Manalo, M, Joss, S, Balasubramanian, M, Johnson, D, Everest, S, Salter, C, Harrison, V, Wise, G, Torokwa, A, Sands, V, Pyle, E, Thomas, T, Lachlan, K, Foulds, N, Lotery, A, Douglas, A G L, Hammans, S R, Pond, E, Horton, R, Kharbanda, M, Hunt, D, Thomas, C, Side, L, Willis, C, Greville-Heygate, S, Mawby, R, Mercer, C, Temple, K, Kinning, E, Bojovic, O & Archer, L 2020, ' Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 6, pp. 1005-1014 . https://doi.org/10.1038/s41436-020-0766-9
Diagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large coh
Publikováno v:
Government Information Quarterly. 24:827-839
Although much digital divide research focuses on access to technology, another cause of the divide is the lack of information awareness that we call information asymmetry. Information asymmetry often stems from inadequate information sharing and can
Autor:
Archer L. Durham
Publikováno v:
Energy. 8:639-642
The Department of Defense's (DOD) Military Traffic Management Command is responsible for routing U.S. military traffic at home and abroad. Within the continental U.S., DOD relies almost solely on commercial transportation. DOD transportation resource
Publikováno v:
Journal of Biological Chemistry. 69:475-509