المؤلفون: Yajie Zhao, Stasa Stankovic, Mine Koprulu, Eleanor Wheeler, Felix R. Day, Hana Lango Allen, Nicola D. Kerrison, Maik Pietzner, Po-Ru Loh, Nicholas J. Wareham, Claudia Langenberg, Ken K. Ong, John R. B. Perry

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-6 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/913fdc222dc74e48854e6709b1ef3e16

المؤلفون: David Melzer, John R B Perry, Dena Hernandez, Anna-Maria Corsi, Kara Stevens, Ian Rafferty, Fulvio Lauretani, Anna Murray, J Raphael Gibbs, Giuseppe Paolisso, Sajjad Rafiq, Javier Simon-Sanchez, Hana Lango, Sonja Scholz, Michael N Weedon, Sampath Arepalli, Neil Rice, Nicole Washecka, Alison Hurst, Angela Britton, William Henley, Joyce van de Leemput, Rongling Li, Anne B Newman, Greg Tranah, Tamara Harris, Vijay Panicker, Colin Dayan, Amanda Bennett, Mark I McCarthy, Aimo Ruokonen, Marjo-Riitta Jarvelin, Jack Guralnik, Stefania Bandinelli, Timothy M Frayling, Andrew Singleton, Luigi Ferrucci

المصدر: PLoS Genetics, Vol 4, Iss 5, p e1000072 (2008)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC2362067?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d2f227e9bb3c4268be2aa96b26a335ee

المؤلفون: Lawless, Dylan, Allen, Hana Lango, Thaventhiran, James E.D., Goddard, Sarah, Burren, Oliver S., Robson, Evie, Peckham, Daniel, Smith, Kenneth G.C., Savic, Sinisa

المصدر: In The Journal of Allergy and Clinical Immunology July 2023 152(1):257-265

المؤلفون: Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury-Ecob, Sian Ellard, Hana Lango Allen, Emily P Yu, Ramil Noche, Suzi Walker, Stephen W Scherer, Sonal Mahida, Christopher M Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier-Veber, Francois Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M Keppler-Noreuil, Lucy Drayson, Kristin W Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frederic Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay Henderson, Lauren Brady, Mark Tarnopolsky, Matthew Bainbridge, Jennifer Friedman, Yline Capri, Larissa Athayde, Fernando Kok, Juliana Gurgel-Giannetti, Luiza L P Ramos, Susan Blaser, James J Dowling, Rosanna Weksberg

المساهمون: Deshwar, Ashish R [0000-0002-9239-3846], Scherer, Stephen W [0000-0002-8326-1999], Nicolas, Gaël [0000-0001-9391-7800], Dabaj, Ivana [0000-0002-2324-1208], Dowling, James J [0000-0002-3984-4169], Apollo - University of Cambridge Repository

مصطلحات موضوعية: brain calcifications, CLDN5, blood brain barrier, Neurology (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11f5b7a48a2c525d610b1e49ea2bf631
https://www.repository.cam.ac.uk/handle/1810/344185

المؤلفون: Speliotes, Elizabeth K, Willer, Cristen J, Berndt, Sonja I, Monda, Keri L, Thorleifsson, Gudmar, Jackson, Anne U, Allen, Hana Lango, Lindgren, Cecilia M, Luan, Jian'an, Mägi, Reedik, Randall, Joshua C, Vedantam, Sailaja, Winkler, Thomas W, Qi, Lu, Workalemahu, Tsegaselassie, Heid, Iris M, Steinthorsdottir, Valgerdur, Stringham, Heather M, Weedon, Michael N, Wheeler, Eleanor, Wood, Andrew R, Ferreira, Teresa, Weyant, Robert J, Segrè, Ayellet V, Estrada, Karol, Liang, Liming, Nemesh, James, Park, Ju-Hyun, Gustafsson, Stefan, Kilpeläinen, Tuomas O, Yang, Jian, Bouatia-Naji, Nabila, Esko, Tõnu, Feitosa, Mary F, Kutalik, Zoltán, Mangino, Massimo, Raychaudhuri, Soumya, Scherag, Andre, Smith, Albert Vernon, Welch, Ryan, Zhao, Jing Hua, Aben, Katja K, Absher, Devin M, Amin, Najaf, Dixon, Anna L, Fisher, Eva, Glazer, Nicole L, Goddard, Michael E, Heard-Costa, Nancy L, Hoesel, Volker, Hottenga, Jouke-Jan, Johansson, Åsa, Johnson, Toby, Ketkar, Shamika, Lamina, Claudia, Li, Shengxu, Moffatt, Miriam F, Myers, Richard H, Narisu, Narisu, Perry, John RB, Peters, Marjolein J, Preuss, Michael, Ripatti, Samuli, Rivadeneira, Fernando, Sandholt, Camilla, Scott, Laura J, Timpson, Nicholas J, Tyrer, Jonathan P, van Wingerden, Sophie, Watanabe, Richard M, White, Charles C, Wiklund, Fredrik, Barlassina, Christina, Chasman, Daniel I, Cooper, Matthew N, Jansson, John-Olov, Lawrence, Robert W, Pellikka, Niina, Prokopenko, Inga, Shi, Jianxin, Thiering, Elisabeth, Alavere, Helene, Alibrandi, Maria TS, Almgren, Peter, Arnold, Alice M, Aspelund, Thor, Atwood, Larry D, Balkau, Beverley, Balmforth, Anthony J, Bennett, Amanda J, Ben-Shlomo, Yoav, Bergman, Richard N, Bergmann, Sven, Biebermann, Heike, Blakemore, Alexandra IF, Boes, Tanja, Bonnycastle, Lori L, Bornstein, Stefan R, Brown, Morris J, Buchanan, Thomas A

المصدر: Nature Genetics. 42(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Prevention, Human Genome, Body Height, Body Mass Index, Body Size, Body Weight, Chromosome Mapping, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Obesity, Polymorphism, Single Nucleotide, White People, MAGIC, Procardis Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0s07q1cw

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Dylan Lawless, Hana Lango Allen, James E.D. Thaventhiran, Sarah Goddard, Oliver S. Burren, Evie Robson, Daniel Peckham, Kenneth G.C. Smith, Sinisa Savic

المصدر: Journal of Allergy and Clinical Immunology.

مصطلحات موضوعية: Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::91b72f5b4d36993563b6020bf7d4a7ba
https://doi.org/10.1016/j.jaci.2023.01.035

المؤلفون: William Rae, John M. Sowerby, Dorit Verhoeven, Mariam Youssef, Prasanti Kotagiri, Natalia Savinykh, Eve L. Coomber, Alexis Boneparth, Angela Chan, Chun Gong, Machiel H. Jansen, Romy du Long, Giorgia Santilli, Ilenia Simeoni, Jonathan Stephens, Kejia Wu, Marta Zinicola, Hana Lango Allen, Helen Baxendale, Dinakantha Kumararatne, Effrossyni Gkrania-Klotsas, Selma C. Scheffler Mendoza, Marco Antonio Yamazaki-Nakashimada, Laura Berrón Ruiz, Cesar Mauricio Rojas-Maruri, Saul O. Lugo Reyes, Paul A. Lyons, Anthony P. Williams, Daniel J. Hodson, Gail A. Bishop, Adrian J. Thrasher, David C. Thomas, Michael P. Murphy, Timothy J. Vyse, Joshua D. Milner, Taco W. Kuijpers, Kenneth G. C. Smith

المساهمون: Pathology, Rae, William [0000-0003-0095-2514], Sowerby, John M [0000-0001-6119-6965], Youssef, Mariam [0000-0002-9616-2172], Savinykh, Natalia [0000-0003-3929-2760], Coomber, Eve L [0000-0002-7093-2263], du Long, Romy [0000-0001-9679-1182], Santilli, Giorgia [0000-0003-1776-1984], Simeoni, Ilenia [0000-0001-5039-2194], Stephens, Jonathan [0000-0003-2020-9330], Wu, Kejia [0000-0002-7700-2907], Zinicola, Marta [0000-0002-3546-3297], Allen, Hana Lango [0000-0002-7803-8688], Baxendale, Helen [0000-0003-3838-3900], Kumararatne, Dinakantha [0000-0001-8438-4686], Gkrania-Klotsas, Effrossyni [0000-0002-0930-8330], Scheffler Mendoza, Selma C [0000-0001-6548-5721], Yamazaki-Nakashimada, Marco Antonio [0000-0002-7609-3923], Ruiz, Laura Berrón [0000-0002-3290-8705], Lugo Reyes, Saul O [0000-0002-3730-4150], Lyons, Paul A [0000-0001-7035-8997], Hodson, Daniel J [0000-0001-6225-2033], Bishop, Gail A [0000-0002-1291-5078], Thrasher, Adrian J [0000-0002-6097-6115], Thomas, David C [0000-0002-9738-2329], Murphy, Michael P [0000-0003-1115-9618], Kuijpers, Taco W [0000-0002-7421-3370], Smith, Kenneth GC [0000-0003-3829-4326], Apollo - University of Cambridge Repository, Graduate School, Paediatrics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development

المصدر: Science immunology, 7(74):eabn3800. American Association for the Advancement of Science
Rae, W, Sowerby, J M, Verhoeven, D, Youssef, M, Kotagiri, P, Savinykh, N, Coomber, E L, Boneparth, A, Chan, A, Gong, C, Jansen, M H, du Long, R, Santilli, G, Simeoni, I, Stephens, J, Wu, K, Zinicola, M, Allen, H L, Baxendale, H, Kumararatne, D, Gkrania-Klotsas, E, Scheffler Mendoza, S C, Yamazaki-Nakashimada, M A, Ruiz, L B, Rojas-Maruri, C M, Lugo Reyes, S O, Lyons, P A, Williams, A P, Hodson, D J, Bishop, G A, Thrasher, A J, Thomas, D C, Murphy, M P, Vyse, T J, Milner, J D, Kuijpers, T W & Smith, K G C 2022, ' Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations ', Science immunology, vol. 7, no. 74, eabn3800, pp. eabn3800 . https://doi.org/10.1126/sciimmunol.abn3800

مصطلحات موضوعية: B-Lymphocytes, TNF Receptor-Associated Factor 3, Neoplasms, Immunology, Mutation, Humans, Autoimmunity, General Medicine

وصف الملف: application/octet-stream; image/png

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0139c7d397315777f60fb0684e7c389e
https://research.vumc.nl/en/publications/31edb0c4-1aef-4910-9666-6fe6f7ad7f2d

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, A.(Ton) A. M. Ermens, Saskia de Pont, Desirée E. C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel R. Nelen, Hana Lango Allen, Steven T. Pals, Berna H. B. Beverloo, Hidde H. Huidekoper, Anja Wagner

المساهمون: Pediatrics, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Clinical Genetics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, Experimental Immunology, CCA - Cancer biology and immunology, Laboratory Genetic Metabolic Diseases, Pathology, 09 Laboratory specialisms

المصدر: Blood, 6(22), 5829-5834. American Society of Hematology
NIHR BioResource Study Group 2022, ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ', Blood, vol. 6, no. 22, pp. 5829-5834 . https://doi.org/10.1182/bloodadvances.2022007233
Blood advances, 6(22), 5829-5834. American Society of Hematology
Blood Advances, 6, 22, pp. 5829-5834
Blood Advances, 6, 5829-5834

مصطلحات موضوعية: Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Leukemia, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Homozygote, Mutation, Humans, Anemia, Hematology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56771080af5c706649bb1d0c336a4c91
https://research.vumc.nl/en/publications/7c387e00-6db9-4862-a1eb-671b0c8d707d