Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Salter, Claire"'
Autor:
Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken to investigate the complexities of the genetic etiology of this heterogeneous condition, th
Externí odkaz:
http://hdl.handle.net/10150/623116
http://arizona.openrepository.com/arizona/handle/10150/623116
http://arizona.openrepository.com/arizona/handle/10150/623116
Akademický článek
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Daily Temperatures and Child Hospital Admissions in Aotearoa New Zealand: Case Time Series Analysis.
Autor:
Lai, Hakkan, Lee, Jeong Eun, Harrington, Luke J., Ahuriri-Driscoll, Annabel, Newport, Christina, Bolton, Annette, Salter, Claire, Morton, Susan, Woodward, Alistair, Hales, Simon
Publikováno v:
International Journal of Environmental Research & Public Health; Sep2024, Vol. 21 Issue 9, p1236, 18p
Akademický článek
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Akademický článek
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Autor:
Fitzpatrick, James P., Latimer, Jane, Olson, Heather Carmichael, Carter, Maureen, Oscar, June, Lucas, Barbara R., Doney, Robyn, Salter, Claire, Try, Julianne, Hawkes, Genevieve, Fitzpatrick, Emily, Hand, Marmingee, Watkins, Rochelle E., Tsang, Tracey W., Bower, Carol, Ferreira, Manuela L., Boulton, John, Elliott, Elizabeth J.
Publikováno v:
In Research in Developmental Disabilities June 2017 65:114-126
Autor:
Wolf, NI, Baple, Emma L, Salter, Claire, Uhlig, Holm H., Crosby, Andrew H, Adam, Margaret, Everman, David B., Mirzaa, Ghayda M., Wallace, Stephanie, Gripp, Karen W.
Publikováno v:
Wolf, NI, Baple, E L, Salter, C, Uhlig, H H, Crosby, A H, Adam, M, Everman, D B, Mirzaa, G M, Wallace, S & Gripp, K W 2022, ' PI4KA-Related Disorder ', GeneReviews .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10172::6ce6ea460a139a399b53f839bd8b0db8
https://research.vumc.nl/en/publications/d153b014-1db9-442c-a3dc-cebb2aab8bb3
https://research.vumc.nl/en/publications/d153b014-1db9-442c-a3dc-cebb2aab8bb3
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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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
Autor:
Carpenter, Rhiannon, Fishlock, Adelle, Mulroy, Ann, Oxley, Beth, Russell, Kate, Salter, Claire, Williams, Nicole, Heffernan, Catherine
Publikováno v:
Journal of Public Health, 2008 Mar 01. 30(1), 8-13.
Externí odkaz:
https://www.jstor.org/stable/45157646