يعرض 1 - 20 نتائج من 213 نتيجة بحث عن '"Seaby, Eleanor G"', وقت الاستعلام: 0.58s تنقيح النتائج
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    Academic Journal

    المؤلفون: Channon-Wells, Samuel, Vito, Ortensia, McArdle, Andrew J, Seaby, Eleanor G, Patel, Harsita, Shah, Priyen, Pazukhina, Ekaterina, Wilson, Clare, Broderick, Claire, D'Souza, Giselle, Keren, Ilana, Nijman, Ruud G, Tremoulet, Adriana, Munblit, Daniel, Ulloa-Gutierrez, Rolando, Carter, Michael J, Ramnarayan, Padmanabhan, De, Tisham, Hoggart, Clive, Whittaker, Elizabeth, Herberg, Jethro A, Kaforou, Myrsini, Cunnington, Aubrey J, Blyuss, Oleg, Levin, Michael, consortium, Best Available Treatment Study, Chouli, Mohamed, Hamadouche, Nacera, Ladj, Mohamed Samir, Vázquez, Jorge Agrimbau, Carmona, Rodrigo, Collia, Adrian Gustavo, Ellis, Alejandro, Natta, Diego, Pérez, Laura, Rubiños, Mayra, Veliz, Natalia, Yori, Silvana, Britton, Philip N, Burgner, David P, Carey, Emma, Crawford, Nigel W, Giuliano, Hayley, McMinn, Alissa, Wong, Shirley, Wood, Nicholas, Holter, Wolfgang, Krainz, Matthias, Ulreich, Raphael, Zurl, Christoph, Dehoorne, Joke, Haerynck, Filomeen, Hoste, Levi, Schelstraete, Petra, Vandekerckhove, Kristof, Willems, Jef, Farias, Camila Giuliana Almeida, Almeida, Flávia Jacqueline, Leal, Izabel Alves, da Silva, André Ricardo Araujo, Araujo e Silva, Anna Esther, Barreiro, Sabrina TA, da Silva, Daniella Gregória Bomfim Prado, Cervi, Maria Celia, dos Santos Naja Cardoso, Mirian Viviane, Teixeira, Cristiane Henriques, Jarovsky, Daniel, Araujo, Julienne Martins, Berezin, Eitan Naaman, Sáfadi, Marco Aurélio Palazzi, la Ossa, Rolando Andres Paternina-de, Vieira, Cristina Souza, Dimitrova, Anna, Ganeva, Margarita, Stefanov, Stefan, Telcharova-Mihaylovska, Albena, Biggs, Catherine M, Lopez, Alison, Scuccimarri, Rosie, Tan, Ryan, Wasserman, Sam, Withington, Davinia, Ampuero, Camila, Aravena, Javiera, B, Raul Bustos, Casanova, Daniel, Cruces, Pablo, Diaz, Franco, García-Salum, Tamara, Godoy, Loreto, Medina, Rafael A, Galaz, Gonzalo Valenzuela, Camacho-Moreno, Germán, Avila-Aguero, María L, Brenes-Chacón, Helena, Camacho-Badilla, Kattia, Ivankovich-Escoto, Gabriela, Naranjo-Zuniga, Gabriela, Soriano-Fallas, Alejandra

    المصدر: The Lancet Rheumatology. 5(4)

    وصف الملف: application/pdf

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    Academic Journal
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    Academic Journal
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    Academic Journal

    وصف الملف: text; spreadsheet

    Relation: https://eprints.soton.ac.uk/495358/1/GEL_CM_resubmission_WITH_FIGS.docx; https://eprints.soton.ac.uk/495358/2/s13073-024-01390-9.pdf; https://eprints.soton.ac.uk/495358/3/All_supplement_resubmission2_final.xlsx; https://eprints.soton.ac.uk/495358/4/reviewer_response2.docx; https://eprints.soton.ac.uk/495358/5/Table3_update.xlsx; https://eprints.soton.ac.uk/495358/6/Table4_update.xlsx; Josephs, Katherine S., Seaby, Eleanor G., May, Philippa, Theotokis, Pantazis, Yu, Jing, Andreou, Avgi, Sinclair, Hannah, Morris-Rosendahl, Deborah, Thomas, Ellen R.A., Ennis, Sarah, Roberts, Angharad M. and Ware, James S. (2024) Cardiomyopathies in 100,000 Genomes Project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery. Genome Medicine, 16 (1), [125]. (doi:10.1186/s13073-024-01390-9 ).

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    Academic Journal
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    Academic Journal

    وصف الملف: text

    Relation: https://eprints.soton.ac.uk/487423/1/1_s2.0_S1098360024000066_main.pdf; Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J., Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne and Ennis, Sarah , Genomics England Research Consortium (2024) A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project. Genetics in Medicine, 26 (4), [101073]. (doi:10.1016/j.gim.2024.101073 ).

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    Academic Journal

    المصدر: Snijders Blok , L , Verseput , J , Rots , D , Venselaar , H , Innes , A M , Stumpel , C , Õunap , K , Reinson , K , Seaby , E G , McKee , S , Burton , B , Kim , K , van Hagen , J M , Waisfisz , Q , Joset , P , Steindl , K , Rauch , A , Li , D , Zackai , E H , Sheppard , S E , Keena , B , Hakonarson , H , Roos , A , ....

  9. 9
    Academic Journal

    وصف الملف: text

    Relation: https://eprints.soton.ac.uk/485707/1/healthcare_2730148_EGS_clean.docx; Seaby, Eleanor G., Simon Thomas, N., Hunt, David, Baralle, Diana, Rehm, Heidi L., O'Donnell-Luria, Anne and Ennis, Sarah (2023) A panel-agnostic strategy ‘HIPPo’ improves diagnostic efficiency in the UK Genomic Medicine Service. Healthcare. (In Press)

  10. 10
    Academic Journal

    وصف الملف: text

    Relation: https://eprints.soton.ac.uk/477595/1/Sirvent_Vallejo_Nat_Comm_2021_main_R3.pdf; https://eprints.soton.ac.uk/477595/2/s41467_023_38588_1.pdf; Sirvent, Sofia, Vallejo, Andres S., Corden, Emma, Teo, Ying, Davies, James, Clayton, Kalum, Seaby, Eleanor G., Lai, Chester, Ennis, Sarah, Alyami, Rfeef, Douilhet, Gemma, Dean, Lareb S.N., Loxham, Matthew, Horswill, Sarah, Healy, Eugene, Roberts, Graham, Hall, Nigel J., Friedmann, Peter, Singh, Harinder, Bennett, Clare L., Ardern-Jones, Michael R. and Polak, Marta E. (2023) Impaired expression of metallothioneins contributes to allergen-induced inflammation in patients with atopic dermatitis. Nature Communications, 14 (1), [2880]. (doi:10.1038/s41467-023-38588-1 ).

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    Academic Journal
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    Academic Journal
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    Academic Journal

    المؤلفون: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T, Isidor, Bertrand

    وصف الملف: text; spreadsheet; image

    Relation: https://eprints.soton.ac.uk/469160/1/K_ry_GIM_WNK3_Main_text_Clean_07_05_2022.pdf; https://eprints.soton.ac.uk/469160/2/Final_version_May_2022_K_ry_GIM_Table_S1_23_03_2022.xlsx; https://eprints.soton.ac.uk/469160/3/Final_version_May_2022_K_ry_GIM_Table_S2_10_12_2021.xlsx; https://eprints.soton.ac.uk/469160/4/Final_version_May_2022_K_ry_GIM_WNK3_Supplementary_Figures_03_03_2022_1_.pdf; https://eprints.soton.ac.uk/469160/5/Final_version_May_2022_K_ry_GIM_WNK3_Figure_1_22_11_2021.tif; https://eprints.soton.ac.uk/469160/6/Final_version_May_2022_K_ry_GIM_WNK3_Figure_2_08_11_2021.pdf; Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M, Josiah, Sunday S, Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J, Hao, Le T, Li, Hong, Stevenson, Roger E, Louie, Raymond J, Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A, Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M, Barr, Eileen E, Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G, Monaghan, Kristin G, Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K, Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M, Berger, Sara M, Milla, Sarah S, Jaykumar, Ankita B, Cobb, Melanie H, Panchagnula, Shreyas, Duy, Phan Q, Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill A, Friez, Michael J, Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E, Schwartz, Charles E, Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T and Isidor, Bertrand (2022) Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics in Medicine, 24 (9), 1941-1951. (doi:10.1016/j.gim.2022.05.009 ).

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    Academic Journal

    المساهمون: National Institute for Health Research Southampton Biomedical Research Centre

    المصدر: Journal of Crohn's and Colitis ; volume 17, issue 3, page 450-458 ; ISSN 1873-9946 1876-4479

  19. 19
    Academic Journal
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    Academic Journal

    المؤلفون: Harrison, Charlotte H. (ORCID 0000-0003-3772-219X), Elmansouri, Ahmad, Parton, William, Myers, Matthew A., Hall, Samuel (ORCID 0000-0002-7335-6636), Stephens, Jonny R. (ORCID 0000-0002-7367-1839), Seaby, Eleanor G., Border, Scott (ORCID 0000-0003-0839-8204)

    المصدر: Anatomical Sciences Education. May-Jun 2019 12(3):236-244.

    Peer Reviewed: Y

    Page Count: 9