المؤلفون: Mahmoud El Safadi, Katie A. Wilson, Indigo J. Strudwicke, Megan L. O’Mara, Mohan Bhadbhade, Tristan Rawling, Andrew M. McDonagh

المصدر: Molecules, Vol 29, Iss 17, p 4213 (2024)

مصطلحات موضوعية: iron chelator, amphetamine-type chelator, antioxidant, molecular dynamics, human dopamine transporter, Organic chemistry, QD241-441

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1420-3049/29/17/4213; https://doaj.org/toc/1420-3049

URL الوصول: https://doaj.org/article/876baac2f9e948f3a75ddf6bfdbc2528

المؤلفون: Matthew J. A. Phillips, Wilhelmina M. Huston, Andrew M. McDonagh, Tristan Rawling

المصدر: Molecules, Vol 29, Iss 7, p 1519 (2024)

مصطلحات موضوعية: anti-chlamydial, protease inhibitor, isocoumarin, Organic chemistry, QD241-441

Relation: https://www.mdpi.com/1420-3049/29/7/1519; https://doaj.org/toc/1420-3049; https://doaj.org/article/087dead06bba4958a977c9e0321c54cb

الاتاحة: https://doi.org/10.3390/molecules29071519
https://doaj.org/article/087dead06bba4958a977c9e0321c54cb

المؤلفون: E Daly, Alan Pearce, E Finnegan, C Cooney, M McDonagh, G Scully, M McCann, R Doherty, A White, S Phelan, N Howarth, L Ryan

مصطلحات موضوعية: Uncategorized, Concussion, Head injury assessment, Screening tools, Assessment protocols, Sport injury risk, SCAT

Relation: https://figshare.com/articles/journal_contribution/An_assessment_of_current_concussion_identification_and_diagnosis_methods_in_sports_settings_a_systematic_review/21375963

الاتاحة: https://doi.org/10.26181/21375963.v1
https://figshare.com/articles/journal_contribution/An_assessment_of_current_concussion_identification_and_diagnosis_methods_in_sports_settings_a_systematic_review/21375963

المؤلفون: Mohd Anisul, Jarrod Shilts, Jeremy Schwartzentruber, James Hayhurst, Annalisa Buniello, Elmutaz Shaikho Elhaj Mohammed, Jie Zheng, Michael Holmes, David Ochoa, Miguel Carmona, Joseph Maranville, Tom R Gaunt, Valur Emilsson, Vilmundur Gudnason, Ellen M McDonagh, Gavin J Wright, Maya Ghoussaini, Ian Dunham

المصدر: eLife, Vol 10 (2021)

مصطلحات موضوعية: COVID-19, proteins, mendelian randomization, genetic colocalization, apoptosis, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/69719; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/683976ef43454b7b95974612097b3624

المؤلفون: Anastasiia Tkacheva (8484786), Bing Sun (44691), Jinqiang Zhang (709289), Guoxiu Wang (820310), Andrew M. McDonagh (1953751)

مصطلحات موضوعية: Biophysics, Biochemistry, Neuroscience, Physiology, Immunology, Infectious Diseases, Computational Biology, Biological Sciences not elsewhere classified, Chemical Sciences not elsewhere classified, Physical Sciences not elsewhere classified, redox mediators, X-ray diffraction studies, Li-O 2 batteries, discharge product Li 2 O 2, RM, RPTIO, 2-, scanning electron microscopy, Nitronyl Nitroxide-Based Redox Medi., PTIO, Li-O 2 batteries benefit

Relation: https://figshare.com/articles/journal_contribution/Nitronyl_Nitroxide-Based_Redox_Mediators_for_Li_O_sub_2_sub_Batteries/13667362

الاتاحة: https://doi.org/10.1021/acs.jpcc.0c08466.s001

المؤلفون: Jinqiang Zhang, Bing Sun, Yufei Zhao, Anastasia Tkacheva, Zhenjie Liu, Kang Yan, Xin Guo, Andrew M. McDonagh, Devaraj Shanmukaraj, Chengyin Wang, Teofilo Rojo, Michel Armand, Zhangquan Peng, Guoxiu Wang

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/3a736ed323054e458a6f6d11558f4394

المؤلفون: Paige K. Summers, Alexander Angeloski, Richard Wuhrer, Michael B. Cortie, Andrew M. McDonagh

المصدر: Physical Chemistry Chemical Physics. 25:7170-7175

مصطلحات موضوعية: General Physics and Astronomy, Physical and Theoretical Chemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3c6a05425a35a3c1f70f0e440be9bdef
https://doi.org/10.1039/d2cp05822g

المؤلفون: Matthew Thakur, Alex Bateman, Cath Brooksbank, Mallory Freeberg, Melissa Harrison, Matthew Hartley, Thomas Keane, Gerard Kleywegt, Andrew Leach, Mariia Levchenko, Sarah Morgan, Ellen M McDonagh, Sandra Orchard, Irene Papatheodorou, Sameer Velankar, Juan Antonio Vizcaino, Rick Witham, Barbara Zdrazil, Johanna McEntyre

المصدر: Nucleic Acids Research. 51:D9-D17

مصطلحات موضوعية: Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6d356dae14a4273b8ee38d9e26e35ca
https://doi.org/10.1093/nar/gkac1098

المؤلفون: David Ochoa, Andrew Hercules, Miguel Carmona, Daniel Suveges, Jarrod Baker, Cinzia Malangone, Irene Lopez, Alfredo Miranda, Carlos Cruz-Castillo, Luca Fumis, Manuel Bernal-Llinares, Kirill Tsukanov, Helena Cornu, Konstantinos Tsirigos, Olesya Razuvayevskaya, Annalisa Buniello, Jeremy Schwartzentruber, Mohd Karim, Bruno Ariano, Ricardo Esteban Martinez Osorio, Javier Ferrer, Xiangyu Ge, Sandra Machlitt-Northen, Asier Gonzalez-Uriarte, Shyamasree Saha, Santosh Tirunagari, Chintan Mehta, Juan María Roldán-Romero, Stuart Horswell, Sarah Young, Maya Ghoussaini, David G Hulcoop, Ian Dunham, Ellen M McDonagh

المصدر: Nucleic Acids Research. 51:D1353-D1359

مصطلحات موضوعية: Genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dffeff31dcc4de4b454719a05269273
https://doi.org/10.1093/nar/gkac1046

المؤلفون: Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3
https://doi.org/10.1101/2023.03.30.23287948

المؤلفون: Shirin R. King, Juliette Massicot, Andrew M. McDonagh

المصدر: Metals, Vol 5, Iss 3, Pp 1454-1461 (2015)

مصطلحات موضوعية: gold chloride, HAuCl4, chlorine, gold nanoparticles, Mining engineering. Metallurgy, TN1-997

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2075-4701/5/3/1454; https://doaj.org/toc/2075-4701

URL الوصول: https://doaj.org/article/3116ff709f4b4a51ba782fc53c041bf7

المؤلفون: Gill Wilson, Anna de Burca, Marta Bleda, Lucy R. Wedderburn, Matthew Welland, Kathleen Stirrups, Valentina Cipriani, Kerrie Woods, Vijeya Ganesan, Susan Hill, Rosaline Quinlivan, Georgia Chan, Mehul T. Dattani, Robert McFarland, Graeme C.M. Black, Rutendo Mapeta, Augusto Rendon, Francesco Muntoni, James O.J. Davies, Mina Ryten, Rebecca E. Foulger, Arianna Tucci, Dina Halai, Tom Fowler, Noemi B.A. Roy, Sarah Leigh, Dragana Josifova, Philip Twiss, Ana L.T. Tavares, Zerin Hyder, Detlef Bockenhauer, Patrick Yu-Wai-Man, Lara Abulhoul, Nikolas Pontikos, Anthony T. Moore, Huw R. Morris, Patrick F. Chinnery, Nicholas W. Wood, Ellen A. Thomas, Shehla Mohammed, Sofia Douzgou, Tanya Lam, Kate Gibson, Robert Sarkany, Teofila Bueser, Wei Wei, Siddharth Banka, Alexander Broomfield, Hiva Fassihi, Nils Koelling, Carolyn Campbell, James Buchanan, Melita Irving, Sandrine Compeyrot-Lacassagne, Karola Rehmström, Austen Worth, Nikhil Thapar, Andrew R. Webster, Paul Brennan, Rita Horvath, Gavin Arno, Richard H Scott, Sam Malka, Andrew O.M. Wilkie, Sofie Ashford, Maria Bitner-Glindzicz, Jana Vandrovcova, William G. Newman, Caroline F. Wright, Andrew M. Schaefer, Roger F.L. James, Robert W. Taylor, Melanie Babcock, Arjune Sen, Emma Baple, Ellen M. McDonagh, Stephanie Grunewald, Loukas Moutsianas, Melissa A. Haendel, Olivera Spasic-Boskovic, Eleanor G. Seaby, Anna Need, Clarissa Pilkington, Sarah Wordsworth, Shamima Rahman, Christine Patch, Colin Wallis, Kristina Ibanez, Bishoy Habib, Eik Haraldsdottir, Huw B. Thomas, Razvan Sultana, Andrea H. Németh, Agata Wolejko, Claire Palles, Phil Beales, Adam C. Shaw, Letizia Vestito, Emily Li, Sarah Rose, Sarah Hunter, Angela Matchan, Genevieve Say, Dalia Kasperaviciute, Henry Houlden, Raymond T. O’Keefe, R. Andres Floto, Jill Clayton-Smith, John B. Taylor, Hywel J. Williams, Volker Straub, Val Davison, Helen Savage, John Chisholm, Eleanor Dewhurst, Charles Crichton, Andrea Haworth, Clare Turnbull, Carolyn Tregidgo, Carme Camps, Christopher Penkett, Emer O’Connor, Georgina Hall, Lyn S. Chitty, Sally Halsall, Andrew D. Mumford, Annette G. Wagner, Eleanor Williams, Mark Bale, Julius O. Jacobsen, Willem H. Ouwehand, Charu Deshpande, Gavin Burns, Smita Y. Patel, James Polke, Thiloka Ratnaike, Gavin Fuller, John Burn, Kenneth E. S. Poole, Emma Footitt, John R. Bradley, Suzanne Wood, Russell J. Grocock, Jenny C. Taylor, Louise Izatt, Kikkeri N. Naresh, Katherine R. Smith, Nigel Burrows, Katrina Newland, Peter N. Robinson, Sarju G. Mehta, Michael A. Simpson, Michael R. Barnes, Pilar Cacheiro, Olivia Niblock, Tracy Lester, Dimitris Polychronopoulos, Helen Brittain, John A. Sayer, Antonio Martin, Eshika Haque, Sean Humphray, Douglass M. Turnbull, Damian Smedley, Andrew Devereau, Stefan Gräf, Sian Ellard, Ivone U.S. Leong, Martin G. Reese, Matthias Wielscher, Louise C. Daugherty, Perry M. Elliott, F. Lucy Raymond, Cecilia Compton, David Bentley, Catherine Snow, James Welch, Frances Flinter, Dom McMullan, Mark J. Caulfield, Paul Aurora, Mark Gurnell, Mary Kasanicki, I. Karen Temple, Michel Michaelides, Deborah Ruddy, Leema Robert, Janice Yip, Grainne S. Gorman, Andrew C. Browning, Richard Quinton, Maureen Cleary, Jamie M. Ellingford, Angela Douglas, Christopher Boustred

المساهمون: Investigators, The 100,000 Genomes Project Pilot

المصدر: Mumford, A D 2021, ' 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care-Preliminary Report ', New England Journal of Medicine, vol. 385, no. 20, pp. 1868-1880 . https://doi.org/10.1056/NEJMoa2035790

مصطلحات موضوعية: Adult, Male, Proband, medicine.medical_specialty, Adolescent, Pilot Projects, Genomics, Polymerase Chain Reaction, Genome, State Medicine, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Health care, Human Phenotype Ontology, Humans, Medicine, Child, Exome sequencing, 030304 developmental biology, Family Characteristics, 0303 health sciences, Whole Genome Sequencing, Genome, Human, business.industry, Genetic Variation, Rare Diseases/diagnosis, General Medicine, Middle Aged, United Kingdom, 3. Good health, Child, Preschool, Family medicine, Medical genetics, Female, business, Bristol, 030217 neurology & neurosurgery, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e7a9cb72d07e6534b79e777083f769
https://doi.org/10.1056/nejmoa2035790

المؤلفون: Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls

المصدر: Am J Hum Genet

مصطلحات موضوعية: Consensus, Computer science, Process (engineering), MEDLINE, Gene Expression, Harmonization, Terminology, Terminology as Topic, Gene panel, Genetics, Humans, Data Curation, Genetics (clinical), Australia, Genetic Diseases, Inborn, Molecular Sequence Annotation, Genomics, Resolution (logic), Mobile Applications, Data science, United Kingdom, Identification (information), Gene Ontology, Scale (social sciences), Perspective, Delivery of Health Care, Biomarkers

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a7bb1d7c13503703eaacf84893bd36
https://doi.org/10.1016/j.ajhg.2021.06.020

المؤلفون: Pablo Riesgo Ferreiro, Tim @timjph Hubbard, Dimitris Polychronopoulos, Andrea Degasperi, Serena Nik-Zainal, Christine Jones, Tauanne Dias Amarante, Arianna Tucci, Ellen M McDonagh, Magdalena Zarowiecki, Tom Fowler, Tracey Mitchell

المساهمون: Degasperi, Andrea [0000-0001-6879-0596], Nik-Zainal, Serena [0000-0001-5054-1727], Apollo - University of Cambridge Repository

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Scientific Reports

مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Skin Neoplasms, Ultraviolet Rays, Science, education, Gene mutation, Lymphoma, T-Cell, Article, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, hemic and lymphatic diseases, Databases, Genetic, Cancer genomics, medicine, T-cell lymphoma, Humans, Sezary Syndrome, Exome sequencing, 030304 developmental biology, 0303 health sciences, Mycosis fungoides, Multidisciplinary, business.industry, Cutaneous T-cell lymphoma, medicine.disease, 3. Good health, Lymphoma, Lymphoma, T-Cell, Cutaneous, 030220 oncology & carcinogenesis, Interferon Regulatory Factors, Mutation, Cancer research, Medicine, business, IRF4

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/postscript; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bcc0a226b529eec2dbcde09b9b6aa7c
https://doaj.org/article/14f26d51c7e44279991de8475f3bb7bb

المؤلفون: Bing Sun, Andrew M. McDonagh, Anastasiia Tkacheva, Jinqiang Zhang, Guoxiu Wang

المصدر: The Journal of Physical Chemistry C. 125:2824-2830

مصطلحات موضوعية: Nitroxide mediated radical polymerization, Chemistry, fungi, food and beverages, 02 engineering and technology, 010402 general chemistry, 021001 nanoscience & nanotechnology, Electrochemistry, Photochemistry, Physical Chemistry, 01 natural sciences, 7. Clean energy, Redox, 03 Chemical Sciences, 09 Engineering, 10 Technology, 0104 chemical sciences, Surfaces, Coatings and Films, Electronic, Optical and Magnetic Materials, General Energy, Physical and Theoretical Chemistry, 0210 nano-technology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d7446e1d8085a1de93660f871feeb46
https://doi.org/10.1021/acs.jpcc.0c08466

المؤلفون: Asier Gonzalez-Uriarte, Paola Roncaglia, Helen Parkinson, Ellen M. McDonagh, Denise Carvalho-Silva, Jeffrey C. Barrett, Cinzia Malangone, Maya Ghoussaini, Eliseo Papa, James D. Hayhurst, Zoë May Pendlington, Andrew Hercules, Simon Jupp, Ian Dunham, Edward Mountjoy, Ellen M. Schmidt, Annalisa Buniello, Javier Ferrer, Mohd Anisul Karim, Gautier Koscielny, Olga Vrousgou, Daniel Wright, Daniel Suveges, Gareth Peat, David G. Hulcoop, Alfredo Miranda, Tony Burdett, Miguel Carmona, David Ochoa, Jeremy Schwartzentruber, Luca Fumis, John A. Todd, Jacqueline A. L. MacArthur, Jarrod Baker, Sandra Machlitt-Northen

المصدر: Nucleic Acids Research

مصطلحات موضوعية: Genotype, AcademicSubjects/SCI00010, Quantitative Trait Loci, Datasets as Topic, Genome-wide association study, Biology, Quantitative trait locus, Genome, 03 medical and health sciences, 0302 clinical medicine, Quantitative Trait, Heritable, Databases, Genetic, Drug Discovery, Genetics, Database Issue, Humans, Molecular Targeted Therapy, 030304 developmental biology, 0303 health sciences, Internet, Drug discovery, Genome, Human, Drug Repositioning, Inflammatory Bowel Diseases, Chromatin, Phenotype, Expression quantitative trait loci, Trait, Identification (biology), Functional genomics, 030217 neurology & neurosurgery, Software, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c68993856a69cde406777188f394460a
http://europepmc.org/articles/PMC7778936

المؤلفون: Shiying Lin, Zhipan Feng, Andrew M. McDonagh, Chen Yu

المصدر: Current Medicinal Chemistry. 27:2681-2703

مصطلحات موضوعية: Biocompatibility, Medicinal & Biomolecular Chemistry, medicine.medical_treatment, Nanotechnology, Photodynamic therapy, 02 engineering and technology, 0304 Medicinal and Biomolecular Chemistry, 0601 Biochemistry and Cell Biology, 1115 Pharmacology and Pharmaceutical Sciences, 010402 general chemistry, complex mixtures, 01 natural sciences, Biochemistry, Drug Discovery, medicine, Hyaluronic Acid, Pharmacology, Photosensitizing Agents, Chemistry, Organic Chemistry, technology, industry, and agriculture, Natural polymers, Hydrogels, 021001 nanoscience & nanotechnology, 0104 chemical sciences, Drug Liberation, Photochemotherapy, Self-healing hydrogels, Drug release, Molecular Medicine, 0210 nano-technology

وصف الملف: Print; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e2e164ffe01d1f8f030bbdd507bd82
https://doi.org/10.2174/0929867326666191016112828

المؤلفون: Kristina Ibañez, James Polke, R Tanner Hagelstrom, Egor Dolzhenko, Dorota Pasko, Ellen Rachel Amy Thomas, Louise C Daugherty, Dalia Kasperaviciute, Katherine R Smith, Zandra C Deans, Sue Hill, Tom Fowler, Richard H Scott, John Hardy, Patrick F Chinnery, Henry Houlden, Augusto Rendon, Mark J Caulfield, Michael A Eberle, Ryan J Taft, Arianna Tucci, Ellen M McDonagh, Antonio Rueda, Dimitris Polychronopoulos, Georgia Chan, Heather Angus-Leppan, Kailash P Bhatia, James E Davison, Richard Festenstein, Pietro Fratta, Paola Giunti, Robin Howard, Laxmi Venkata, Matilde Laurá, Meriel McEntagart, Lara Menzies, Huw Morris, Mary M Reilly, Robert Robinson, Elisabeth Rosser, Francesca Faravelli, Anette Schrag, Jonathan M Schott, Thomas T Warner, Nicholas W Wood, David Bourn, Kelly Eggleton, Robyn Labrum, Philip Twiss, Stephen Abbs, Liana Santos, Ghareesa Almheiri, Isabella Sheikh, Jana Vandrovcova, Christine Patch, Ana Lisa Taylor Tavares, Zerin Hyder, Anna Need, Helen Brittain, Emma Baple, Loukas Moutsianas, Viraj Deshpande, Denise L Perry, Subramanian S. Ajay, Aditi Chawla, Vani Rajan, Kathryn Oprych, Angela Douglas, Gill Wilson, Sian Ellard, I Karen Temple, Andrew Mumford, Dom McMullan, Kikkeri Naresh, Frances A Flinter, Jenny C Taylor, Lynn Greenhalgh, William Newman, Paul Brennan, John A Sayer, F Lucy Raymond, Lyn S Chitty, John C. Ambrose, Prabhu Arumugam, Marta Bleda, Freya Boardman-Pretty, Jeanne M. Boissiere, Christopher R. Boustred, Clare E.H. Craig, Anna de Burca, Andrew Devereau, Greg Elgar, Rebecca E. Foulger, Pedro Furió-Tarí, Joanne Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, James Holman, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Melis Kayikci, Lea Lahnstein, Kay Lawson, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Joanne Mason, Michael Mueller, Nirupa Murugaesu, Chris A. Odhams, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Pablo Riesgo-Ferreiro, Tim Rogers, Mina Ryten, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Damian Smedley, Alona Sosinsky, William Spooner, Helen E. Stevens, Alexander Stuckey, Razvan Sultana, Simon R. Thompson, Carolyn Tregidgo, Emma Walsh, Sarah A. Watters, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Magdalena Zarowiecki

المصدر: WGS for Neurological Diseases Group 2022, ' Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK : a retrospective diagnostic accuracy and prospective clinical validation study ', The Lancet. Neurology, vol. 21, no. 3, pp. 234-245 . https://doi.org/10.1016/S1474-4422(21)00462-2

مصطلحات موضوعية: Fragile X Mental Retardation Protein, DNA Repeat Expansion, Whole Genome Sequencing, Whole Genome Sequencing/methods, Humans, Neurology (clinical), Prospective Studies, Child, Fragile X Mental Retardation Protein/genetics, State Medicine, United Kingdom, Retrospective Studies

وصف الملف: text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8164460c3f9da55229a5e7da7b58924d
https://eprints.soton.ac.uk/455528/

المؤلفون: C. Cooney, D. McGettigan, M. McDonagh, L. Ryan

المصدر: Proceedings of the Nutrition Society. 81

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1409312a2ffacb98f0b1d74b04f5276b
https://doi.org/10.1017/s0029665122001501

المؤلفون: Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16c
https://pubmed.ncbi.nlm.nih.gov/35507016