المؤلفون: Stephens, Jonathan C., Lai, John, Kassas, Bachir

المصدر: EDIS; Vol. 2024 No. 2 ; 2576-0009

مصطلحات موضوعية: agricultural labor crisis, migrant labor, H-2A Temporary Guest Worker Program, Farm Workers, Employment Laws and Regulations, Florida Economics

جغرافية الموضوع: Florida

وصف الملف: application/pdf

Relation: https://journals.flvc.org/edis/article/view/131772/139511; https://journals.flvc.org/edis/article/view/131772/139512; https://journals.flvc.org/edis/article/view/131772

الاتاحة: https://journals.flvc.org/edis/article/view/131772
https://doi.org/10.32473/edis-fe1139-2023

المؤلفون: Sims, Matthew C, Gierula, Magdalena, Stephens, Jonathan C, Tokolyi, Alex, Stefanucci, Luca, Persyn, Elodie, Sun, Luanluan, Collins, Janine H, Davenport, Emma E, Di Angelantonio, Emanuele, Downes, Kate, Inouye, Michael, Paul, Dirk S, Thomas, Will, Tolios, Alexander, Ouwehand, Willem H, Gleadall, Nicholas S, Crawley, James T B, Butterworth, Adam S, Frontini, Mattia, Ahnström, Josefin

المصدر: Blood Adv ; ISSN:2473-9537 ; Volume:9 ; Issue:1

Relation: https://doi.org/10.1182/bloodadvances.2024014020; https://pubmed.ncbi.nlm.nih.gov/39365993

الاتاحة: https://doi.org/10.1182/bloodadvances.2024014020
https://pubmed.ncbi.nlm.nih.gov/39365993

المؤلفون: Sims, Matthew C., Gierula, Magdalena, Stephens, Jonathan C., Tokolyi, Alex, Stefanucci, Luca, Persyn, Elodie, Sun, Luanluan, Collins, Janine H., Davenport, Emma E., Di Angelantonio, Emanuele, Downes, Kate, Inouye, Michael, Paul, Dirk S., Thomas, Will, Tolios, Alexander, Ouwehand, Willem H., Gleadall, Nicholas S., Crawley, James T. B., Butterworth, Adam S., Frontini, Mattia, Ahnström, Josefin

المصدر: Blood Advances; January 2025, Vol. 9 Issue: 1 p132-142, 11p

المؤلفون: Swietlik, Emilia M., Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Welch, Carrie C.L., Pauciulo, Michael W., Southgate, Laura, Martin, Jennifer M., Treacy, Carmen M., Penkett, Christopher J., Stephens, Jonathan C., Bogaard, Harm J., Church, Colin, Coghlan, Gerry, Coleman, Anna W., Condliffe, Robin, Eichstaedt, Christina A., Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Grünig, Ekkehard, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., Mackenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R., Vonk Noordegraaf, Anton, Wharton, John, Wild, James M., Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R., Trembath, Richard C., Shen, Yufeng, Chung, Wendy K., Swift, Andrew J., Nichols, William C., Morrell, Nicholas W., Gräf, Stefan

المصدر: Swietlik , E M , Greene , D , Zhu , N , Megy , K , Cogliano , M , Rajaram , S , Pandya , D , Tilly , T , Lutz , K A , Welch , C C L , Pauciulo , M W , Southgate , L , Martin , J M , Treacy , C M , Penkett , C J , Stephens , J C , Bogaard , H J , Church , C , Coghlan , G , Coleman , A W , Condliffe , R , Eichstaedt , C A ....

مصطلحات موضوعية: computed tomography, family history, genetic association studies, pulmonary hypertension, vascular endothelial growth factor receptor

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/f5f988ac-7c5f-4c7e-b01e-cf4aee882668
https://doi.org/10.1161/CIRCGEN.120.003155
http://www.scopus.com/inward/record.url?scp=85104495698&partnerID=8YFLogxK

المؤلفون: Sims, Matthew, C, Mayer, Louisa, Collins, Janine, H, Bariana, Tadbir, K, Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Denis, Kollipara, Laxmikanth, Burden, Frances, S, Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William, J, Bahou, Wadie, F, Bury, Loredana, Chalmers, Elizabeth, da Silva, Rachael, de Candia, Erica, Deevi, Sri V V, Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andreas, Gresele, Paolo, Hart, Dan, Hurtaud, Marie-Françoise, Kelly, Anne, M, Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry, Leinøe, Eva, B, Mapeta, Rutendo, Mckinney, Harriet, Michelson, Alan, D, Morais, Sara, Nugent, Diane, Papadia, Sofia, Park, Soo, J, Pasi, John, Podda, Gian, Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan, C, Tait, Robert, C, Turro, Ernest, Wu, John, K M, Zieger, Barbara, Kuijpers, Taco, W, Whetton, Anthony, D, Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy, N, Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem, H, Favier, Remi, Guerrero, Jose, A

المساهمون: University of Cambridge UK (CAM), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Leibniz-Institut für Analytische Wissenschaften (ISAS), University of Manchester Manchester, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Stony Brook University SUNY (SBU), State University of New York (SUNY), Università degli Studi di Perugia = University of Perugia (UNIPG), Royal Hospital for Sick Children Edinburgh, Catholic University School of Medicine, Royal Free London NHS Foundation Trust, University of Medicine Greifswald, Queen Mary University of London (QMUL), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Ninewells Hospital and Medical School Dundee, Hospices Civils de Lyon (HCL), Rigshospitalet Copenhagen, Copenhagen University Hospital, Harvard Medical School Boston (HMS), Centro Hospitalar Universitário do Porto, Children's Hospital of Orange County (CHOC), University of California (UC), Università degli Studi di Milano = University of Milan (UNIMI), University of Calgary, Manchester Academic Health Science Centre (MAHSC), Ben-Gurion University of the Negev (BGU), Tel Aviv University (TAU), Glasgow Royal Infirmary, University of British Columbia Canada (UBC), Albert-Ludwigs-Universität Freiburg = University of Freiburg, VU University Medical Center Amsterdam, University of Aberdeen, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), The University of Western Australia (UWA), Hôpital Xavier Arnozan, Dynamique moléculaire de la transformation hématopoïétique (Dynamo), Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: BEACH-DOMAIN, NBEAL2, PATHOGENICITY, PROTEINS, PROTEOME, CLASSIFICATION, ABNORMALITIES, ASSOCIATION, GUIDELINES, NEUROBEACHIN-LIKE 2, [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/32693407; PUBMED: 32693407; WOS: 000582191500010

الاتاحة: https://amu.hal.science/hal-03162108
https://amu.hal.science/hal-03162108v1/document
https://amu.hal.science/hal-03162108v1/file/bloodbld2019004776.pdf
https://doi.org/10.1182/blood.2019004776

المؤلفون: Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo, Simeoni, Ilenia

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/126057/1/Bury_et_al-2019-Human_Mutation.pdf; Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter https://orca.cardiff.ac.uk/view/cardiffauthors/A070283V.html orcid:0000-0002-6410-1324 orcid:0000-0002-6410-1324, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo and Simeoni, Ilenia 2020. Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants. Human Mutation 41 (1) , pp. 277-290. 10.1002/humu.23927 https://doi.org/10.1002/humu.23927 file https://orca.cardiff.ac.uk/id/eprint/126057/1/Bury_et_al-2019-Human_Mutation.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/126057/
https://doi.org/10.1002/humu.23927
https://orca.cardiff.ac.uk/id/eprint/126057/1/Bury_et_al-2019-Human_Mutation.pdf

المؤلفون: Staples, Emily, Simeoni, Ilenia, Stephens, Jonathan C, Allen, Hana Lango, NIHR-BioResource, Wright, Penny, Davies, E Graham, Javid, Babak, Gkrania-Klotsas, Effrossyni, Gattens, Michael, Firth, Helen, Shamardina, Olga, Deevi, Sri VV, Prapa, Matina, Uttenthal, Ben, Kumararatne, Dinakantha, Thaventhiran, James ED

مصطلحات موضوعية: ADA2, Antibody deficiency, EBV, Immunodeficiency, Lymphoproliferative disease, Viraemia, Adenosine Deaminase, Adult, Epstein-Barr Virus Infections, Herpesvirus 4, Human, Humans, Intercellular Signaling Peptides and Proteins, Lymphoproliferative Disorders, Male

وصف الملف: Print-Electronic; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://www.repository.cam.ac.uk/handle/1810/305432

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/305432
https://doi.org/10.17863/CAM.52512

المؤلفون: Bury, Loredana, Megy, Karyn, Stephens, Jonathan C, Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K, Bonduel, Mariana, Butta, Nora V, Collins, Peter, Curry, Nicola, Deevi, Sri VV, Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P, Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M, Penkett, Christopher, Perry, David J, Stirrups, Kathleen E, Turro, Ernest, Westbury, Sarah K, Wu, John, BioResource, Nihr, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H, Gresele, Paolo, Simeoni, Ilenia

مصطلحات موضوعية: ACMG guidelines, MYH9-related disorders, clinical diagnosis, genomics, high throughput sequencing, variant classification

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/298980

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/298980
https://doi.org/10.17863/CAM.46037

المؤلفون: Sivapalaratnam, Suthesh, Westbury, Sarah K., Stephens, Jonathan C., Greene, Daniel, Downes, Kate, Kelly, Anne M., Lentaigne, Claire, Astle, William J., Huizinga, Eric G., Nurden, Paquita, Papadia, Sofia, Peerlinck, Kathelijne, Penkett, Christopher J., Perry, David J., Roughley, Catherine, Simeoni, Ilenia, Stirrups, Kathleen E, Hart, Daniel P., Tait, R. Campbell, Mumford, Andrew D., Laffan, Michael A., Freson, Kathleen, Ouwehand, Willem H., Kunishima, Shinji, Turro, Ernest

المساهمون: Sub Crystal and Structural Chemistry, Crystal and Structural Chemistry

مصطلحات موضوعية: Taverne

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/361103

الاتاحة: https://dspace.library.uu.nl/handle/1874/361103

المؤلفون: Simeoni, Ilenia, Stephens, Jonathan C, Hu, Fengyuan, Deevi, Sri V V, Megy, Karyn, Bariana, Tadbir K, Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J A, Westbury, Sarah K, Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P, Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F, Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C, Favier, Rémi, French, Deborah L, Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne, Guerrero, Jose, Hampshire, Daniel J, Hart, Daniel P, Heemskerk, Johan W M, Henskens, Yvonne M C, Hill, Marian, Hogg, Nancy, Jolley, Jennifer D, Kahr, Walter H, Kelly, Anne M, Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P, Liesner, Ri, Lopez, Jose, Mapeta, Rutendo P, Mathias, Mary, Millar, Carolyn M, Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T, Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew, Smethurst, Peter A, Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A, Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel, Penkett, Christopher J, Laffan, Michael A, Mumford, Andrew D, Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H, Turro, Ernest

المصدر: Simeoni , I , Stephens , J C , Hu , F , Deevi , S V V , Megy , K , Bariana , T K , Lentaigne , C , Schulman , S , Sivapalaratnam , S , Vries , M J A , Westbury , S K , Greene , D , Papadia , S , Alessi , M-C , Attwood , A P , Ballmaier , M , Baynam , G , Bermejo , E , Bertoli , M , Bray , P F , Bury , L , Cattaneo , M , Collins , ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/2c7ba3fc-79e8-45b6-b5aa-65ccaf3ddfe1
https://research-information.bris.ac.uk/en/publications/2c7ba3fc-79e8-45b6-b5aa-65ccaf3ddfe1
https://doi.org/10.1182/blood-2015-12-688267
https://research-information.bris.ac.uk/ws/files/81597295/TG_paper.pdf

المؤلفون: Stritt, Simon, Nurden, Paquita, Turro, Ernest, Greene, Daniel, Jansen, Sjoert B, Westbury, Sarah K, Petersen, Romina, Astle, William J, Marlin, Sandrine, Bariana, Tadbir K, Kostadima, Myrto, Lentaigne, Claire, Maiwald, Stephanie, Papadia, Sofia, Kelly, Anne M, Stephens, Jonathan C, Penkett, Christopher J, Ashford, Sofie, Tuna, Salih, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Favier, Rémi, Lambert, Michele P, Mathias, Mary, Millar, Carolyn M, Mapeta, Rutendo, Perry, David J, Schulman, Sol, Simeoni, Ilenia, Thys, Chantal, Consortium, Bridge-Bpd, Gomez, Keith, Erber, Wendy N, Stirrups, Kathleen, Rendon, Augusto, Bradley, John R, van Geet, Chris, Raymond, F Lucy, Laffan, Michael A, Nurden, Alan T, Nieswandt, Bernhard, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H, Mumford, Andrew D

المصدر: Stritt , S , Nurden , P , Turro , E , Greene , D , Jansen , S B , Westbury , S K , Petersen , R , Astle , W J , Marlin , S , Bariana , T K , Kostadima , M , Lentaigne , C , Maiwald , S , Papadia , S , Kelly , A M , Stephens , J C , Penkett , C J , Ashford , S , Tuna , S , Austin , S , Bakchoul , T , Collins , P , Favier , R , ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/57509c95-e756-43c8-96ec-de3a3492481b
https://research-information.bris.ac.uk/en/publications/57509c95-e756-43c8-96ec-de3a3492481b
https://doi.org/10.1182/blood-2015-10-675629
https://research-information.bris.ac.uk/ws/files/73672463/BLOOD_2015_675629v1_Freson.pdf

المؤلفون: Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K, Westbury, Sarah K, Kelly, Anne M, Selleslag, Dominik, Stephens, Jonathan C, Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J, Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V V, Favier, Rémi, Kostadima, Myrto, Lambert, Michele P, Mathias, Mary, Millar, Carolyn M, Peerlinck, Kathelijne, Perry, David J, Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N, Mumford, Andrew D, Nurden, Paquita, Stirrups, Kathleen, Bradley, John R, Lucy Raymond, F, Laffan, Michael A, Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H

المصدر: Turro , E , Greene , D , Wijgaerts , A , Thys , C , Lentaigne , C , Bariana , T K , Westbury , S K , Kelly , A M , Selleslag , D , Stephens , J C , Papadia , S , Simeoni , I , Penkett , C J , Ashford , S , Attwood , A , Austin , S , Bakchoul , T , Collins , P , Deevi , S V V , Favier , R , Kostadima , M , Lambert , M P , Mathias , M ....

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/1983/4c6249c0-07a1-4be5-8208-b711743fff08
https://research-information.bris.ac.uk/en/publications/4c6249c0-07a1-4be5-8208-b711743fff08
https://doi.org/10.1126/scitranslmed.aad7666
https://research-information.bris.ac.uk/ws/files/75921145/SRC_main.pdf

المؤلفون: Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert BG, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen

المساهمون: BRIDGE-BPD Consortium

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

Relation: 602300; https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/14332; urn:nbn:de:bvb:20-opus-143329; https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-143329; https://doi.org/10.1186/s13073-015-0151-5; https://opus.bibliothek.uni-wuerzburg.de/files/14332/020_Westbury_GENOME-MEDICINE.pdf

الاتاحة: https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/14332
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-143329
https://doi.org/10.1186/s13073-015-0151-5
https://opus.bibliothek.uni-wuerzburg.de/files/14332/020_Westbury_GENOME-MEDICINE.pdf

المؤلفون: Berndt, Sonja I., Gustafsson, Stefan, Maegi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian'an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Lee, Sang Hong, Liang, Liming, Lin, Dan-Yu, Min, Josine L., Neale, Benjamin M., Thorleifsson, Gudmar, Yang, Jian, Albrecht, Eva, Amin, Najaf, Bragg-Gresham, Jennifer L., Cadby, Gemma, den Heijer, Martin, Eklund, Niina, Fischer, Krista, Goel, Anuj, Hottenga, Jouke-Jan, Huffman, Jennifer E., Jarick, Ivonne, Johansson, Åsa, Johnson, Toby, Kanoni, Stavroula, Kleber, Marcus E., Koenig, Inke R., Kristiansson, Kati, Kutalik, Zoltn, Lamina, Claudia, Lecoeur, Cecile, Li, Guo, Mangino, Massimo, McArdle, Wendy L., Medina-Gomez, Carolina, Mueller-Nurasyid, Martina, Ngwa, Julius S., Nolte, Ilja M., Paternoster, Lavinia, Pechlivanis, Sonali, Perola, Markus, Peters, Marjolein J., Preuss, Michael, Rose, Lynda M., Shi, Jianxin, Shungin, Dmitry, Smith, Albert Vernon, Strawbridge, Rona J., Surakka, Ida, Teumer, Alexander, Trip, Mieke D., Tyrer, Jonathan, Van Vliet-Ostaptchouk, Jana V., Vandenput, Liesbeth, Waite, Lindsay L., Zhao, Jing Hua, Absher, Devin, Asselbergs, Folkert W., Atalay, Mustafa, Attwood, Antony P., Balmforth, Anthony J., Basart, Hanneke, Beilby, John, Bonnycastle, Lori L., Brambilla, Paolo, Bruinenberg, Marcel, Campbell, Harry, Chasman, Daniel I., Chines, Peter S., Collins, Francis S., Connell, John M., Cookson, William O., de Faire, Ulf, de Vegt, Femmie, Dei, Mariano, Dimitriou, Maria, Edkins, Sarah, Estrada, Karol, Evans, David M., Farrall, Martin, Ferrario, Marco M., Ferrieres, Jean, Franke, Lude, Frau, Francesca, Gejman, Pablo V., Grallert, Harald, Groenberg, Henrik, Gudnason, Vilmundur, Hall, Alistair S., Hall, Per, Hartikainen, Anna-Liisa, Hayward, Caroline, Heard-Costa, Nancy L., Heath, Andrew C., Hebebrand, Johannes, Homuth, Georg, Hu, Frank B., Hunt, Sarah E., Hyppoenen, Elina, Iribarren, Carlos, Jacobs, Kevin B., Jansson, John-Olov, Jula, Antti, Kahonen, Mika, Kathiresan, Sekar, Kee, Frank, Khaw, Kay-Tee, Kivimaki, Mika, Koenig, Wolfgang, Kraja, Aldi T., Kumari, Meena, Kuulasmaa, Kari, Kuusisto, Johanna, Laitinen, Jaana H., Lakka, Timo A., Langenberg, Claudia, Launer, Lenore J., Lind, Lars, Lindström, Jaana, Liu, Jianjun, Liuzzi, Antonio, Lokki, Marja-Liisa, Lorentzon, Mattias, Madden, Pamela A., Magnusson, Patrik K., Manunta, Paolo, Marek, Diana, März, Winfried, Leach, Irene Mateo, McKnight, Barbara, Medland, Sarah E., Mihailov, Evelin, Milani, Lili, Montgomery, Grant W., Mooser, Vincent, Muehleisen, Thomas W., Munroe, Patricia B., Musk, Arthur W., Narisu, Narisu, Navis, Gerjan, Nicholson, George, Nohr, Ellen A., Ong, Ken K., Oostra, Ben A., Palmer, Colin N. A., Palotie, Aarno, Peden, John F., Pedersen, Nancy, Peters, Annette, Polasek, Ozren, Pouta, Anneli, Pramstaller, Peter P., Prokopenko, Inga, Puetter, Carolin, Radhakrishnan, Aparna, Raitakari, Olli, Rendon, Augusto, Rivadeneira, Fernando, Rudan, Igor, Saaristo, Timo E., Sambrook, Jennifer G., Sanders, Alan R., Sanna, Serena, Saramies, Jouko, Schipf, Sabine, Schreiber, Stefan, Schunkert, Heribert, Shin, So-Youn, Signorini, Stefano, Sinisalo, Juha, Skrobek, Boris, Soranzo, Nicole, Stancakova, Alena, Stark, Klaus, Stephens, Jonathan C., Stirrups, Kathleen, Stolk, Ronald P., Stumvoll, Michael, Swift, Amy J., Theodoraki, Eirini V., Thorand, Barbara, Tregouet, David-Alexandre, Tremoli, Elena, Van der Klauw, Melanie M., van Meurs, Joyce B. J., Vermeulen, Sita H., Viikari, Jorma, Virtamo, Jarmo, Vitart, Veronique, Waeber, Gerard, Wang, Zhaoming, Widen, Elisabeth, Wild, Sarah H., Willemsen, Gonneke, Winkelmann, Bernhard R., Witteman, Jacqueline C. M., Wolffenbuttel, Bruce H. R., Wong, Andrew, Wright, Alan F., Zillikens, M. Carola, Amouyel, Philippe, Boehm, Bernhard O., Boerwinkle, Eric, Boomsma, Dorret I., Caulfield, Mark J., Chanock, Stephen J., Cupples, L. Adrienne, Cusi, Daniele, Dedoussis, George V., Erdmann, Jeanette, Eriksson, Johan G., Franks, Paul W., Froguel, Philippe, Gieger, Christian, Gyllensten, Ulf, Hamsten, Anders, Harris, Tamara B., Hengstenberg, Christian, Hicks, Andrew A., Hingorani, Aroon, Hinney, Anke, Hofman, Albert, Hovingh, Kees G., Hveem, Kristian, Illig, Thomas, Jarvelin, Marjo-Riitta, Joeckel, Karl-Heinz, Keinanen-Kiukaanniemi, Sirkka M., Kiemeney, Lambertus A., Kuh, Diana, Laakso, Markku, Lehtimaki, Terho, Levinson, Douglas F., Martin, Nicholas G., Metspalu, Andres, Morris, Andrew D., Nieminen, Markku S., Njolstad, Inger, Ohlsson, Claes, Oldehinkel, Albertine J., Ouwehand, Willem H., Palmer, Lyle J., Penninx, Brenda, Power, Chris, Province, Michael A., Psaty, Bruce M., Qi, Lu, Rauramaa, Rainer, Ridker, Paul M., Ripatti, Samuli, Salomaa, Veikko, Samani, Nilesh J., Snieder, Harold, Sorensen, Thorkild I. A., Spector, Timothy D., Stefansson, Kari, Tonjes, Anke, Tuomilehto, Jaakko, Uitterlinden, Andre G., Uusitupa, Matti, van der Harst, Pim, Vollenweider, Peter, Wallaschofski, Henri, Wareham, Nicholas J., Watkins, Hugh, Wichmann, H-Erich, Wilson, James F., Abecasis, Goncalo R., Assimes, Themistocles L., Barroso, Ines, Boehnke, Michael, Borecki, Ingrid B., Deloukas, Panos, Fox, Caroline S., Frayling, Timothy, Groop, Leif C., Haritunian, Talin, Heid, Iris M., Hunter, David, Kaplan, Robert C., Karpe, Fredrik, Moffatt, Miriam F., Mohlke, Karen L., O'Connell, Jeffrey R., Pawitan, Yudi, Schadt, Eric E., Schlessinger, David, Steinthorsdottir, Valgerdur, Strachan, David P., Thorsteinsdottir, Unnur, van Duijn, Cornelia M., Visscher, Peter M., Di Blasio, Anna Maria, Hirschhorn, Joel N., Lindgren, Cecilia M., Morris, Andrew P., Meyre, David, Scherag, Andr, McCarthy, Mark I., Speliotes, Elizabeth K., North, Kari E., Loos, Ruth J. F., Ingelsson, Erik

مصطلحات موضوعية: Genetics, Genetik

وصف الملف: application/pdf

Relation: Nature Genetics, 1061-4036, 2013, 45:5, s. 501-U69; PMID 23563607; ISI:000318158200011

الاتاحة: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-200675
https://doi.org/10.1038/ng.2606

المؤلفون: van Iperen, Erik P A, Sivapalaratnam, Suthesh, Boekholdt, S Matthijs, Hovingh, G Kees, Maiwald, Stephanie, Tanck, Michael W, Soranzo, Nicole, Stephens, Jonathan C, Sambrook, Jennifer G, Levi, Marcel, Ouwehand, Willem H, Kastelein, John JP, Trip, Mieke D, Zwinderman, Aeilko H

المصدر: European Journal of Human Genetics ; volume 22, issue 6, page 809-813 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2013.242
http://www.nature.com/articles/ejhg2013242.pdf
http://www.nature.com/articles/ejhg2013242

المؤلفون: Turner, Arthur K., Stephens, Jonathan C., Beavis, Juliet C., Greenwood, Judith, Gewert, Cornelia, Randall, Roger, Freeman, Donna, Darsley, Michael J.

المصدر: Clinical and Vaccine Immunology ; volume 18, issue 12, page 2128-2135 ; ISSN 1556-6811 1556-679X

الاتاحة: http://dx.doi.org/10.1128/cvi.05345-11
https://journals.asm.org/doi/pdf/10.1128/CVI.05345-11

المؤلفون: Stephens, Jonathan C., Darsley, Michael J., Turner, Arthur K.

المصدر: Infection and Immunity ; volume 74, issue 7, page 4383-4386 ; ISSN 0019-9567 1098-5522

الاتاحة: http://dx.doi.org/10.1128/iai.00429-06
https://journals.asm.org/doi/pdf/10.1128/IAI.00429-06

المؤلفون: Swietlik, Emilia M, Greene, Daniel, Zhu, Na, Megy, Karyn, Cogliano, Marcella, Rajaram, Smitha, Pandya, Divya, Tilly, Tobias, Lutz, Katie A, Welch, Carrie CL, Pauciulo, Michael W, Southgate, Laura, Martin, Jennifer M, Treacy, Carmen M, Penkett, Christopher J, Stephens, Jonathan C, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Coleman, Anna W, Condliffe, Robin, Eichstaedt, Christina A, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Grünig, Ekkehard, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G, Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D, Mackenzie Ross, Robert V, McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J, Seeger, Werner, Soubrier, Florent, Suntharalingam, Jay, Toshner, Mark R, Vonk Noordegraaf, Anton, Wharton, John, Wild, James M, Wort, Stephen John, Lawrie, Allan, Wilkins, Martin R, Trembath, Richard C, Shen, Yufeng, Chung, Wendy K, Swift, Andrew J, Nichols, William C, Morrell, Nicholas W, Gräf, Stefan

مصطلحات موضوعية: computed tomography

وصف الملف: Print-Electronic; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://www.repository.cam.ac.uk/handle/1810/315146

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/315146
https://doi.org/10.17863/CAM.62251

المؤلفون: Lentaigne, Claire, Greene, Daniel, Sivapalaratnam, Suthesh, Favier, Remi, Seyres, Denis, Thys, Chantal, Grassi, Luigi, Mangles, Sarah, Sibson, Keith, Stubbs, Matthew, Burden, Frances, Bordet, Jean-Claude, Armari-Alla, Corinne, Erber, Wendy, Farrow, Samantha, Gleadall, Nicholas, Gomez, Keith, Megy, Karyn, Papadia, Sofia, Penkett, Christopher J, Sims, Matthew C, Stefanucci, Luca, Stephens, Jonathan C, Read, Randy J, Stirrups, Kathleen E, Ouwehand, Willem H, Laffan, Michael A, NIHR BioResource, Frontini, Mattia, Freson, Kathleen, Turro, Ernest

المساهمون: Seyres, Denis [0000-0002-2066-6980], Megy, Karyn [0000-0002-2826-3879], Papadia, Sofia [0000-0002-9222-3812], Stefanucci, Luca [0000-0002-4352-1151], Stephens, Jonathan [0000-0003-2020-9330], Read, Randy [0000-0001-8273-0047], Johnson, Kathleen [0000-0002-6823-3252], Ouwehand, Willem [0000-0002-7744-1790], Frontini, Mattia [0000-0001-8074-6299], Turro Bassols, Ernest [0000-0002-1820-6563], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Blood Platelets, Male, Genetic Diseases, Inborn, Mutation, Missense, Cytoplasmic Granules, Thrombocytopenia, Chromatin, Thrombopoiesis, Ikaros Transcription Factor, HEK293 Cells, Gene Expression Regulation, Humans, Female, Germ-Line Mutation

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6eeb919f59d9240998cce6ef8d83e76

المؤلفون: Sims, Matthew C, Mayer, Louisa, Collins, Janine, Bariana, Tadbir, Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Deni, Kollipara, Laxmikanth, Burden, France, Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William John, Bahou, Wadie, Bury, Loredana, Chalmers, Elizabeth, Da Silva, Rachael, De Candia, Erica, Deevi, Sri V V, Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andrea, Gresele, Paolo, Hart, Daniel Patrick, Hurtaud, Marie-Françoise, Kelly, Anne, Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry M, Leinøe, Eva B, Mapeta, Rutendo P, Mckinney, Harriet, Michelson, Alan D, Morais, Sara, Nugent, Diane J, Papadia, Sofia, Park, Soo J, Pasi, John, Podda, Gian Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan C, Tait, Robert C, Turro, Ernest, Wu, John K, Zieger, Barbara Maria Hildegard, Bioresource, Nihr, Kuijpers, Taco W, Whetton, Anthony D, Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy, Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem Hendrik, Favier, Remi, Guerrero, Jose A, De Candia, Erica (ORCID:0000-0003-0942-2819)

مصطلحات الفهرس: Platelet disease, Bleeding disease, Grey platelet syndrome, Settore MED/15 - MALATTIE DEL SANGUE, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/161386
info:eu-repo/semantics/altIdentifier/pmid/32693407
info:eu-repo/semantics/altIdentifier/wos/WOS:000582191500010
issue:N/A
firstpage:N/A
lastpage:N/A
issueyear:2020
journal:BLOOD