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المؤلفون: John Pasi, Desmond Creagh, D. J. Perry, Ruth Pink, Gregory M. Hayes, Amanda Clark, Sylvia Fong, Sophia Stanford, Gillian C. Lowe, Savita Rangarajan, Kandiah Chandrakumaran, Nicola Curry
المصدر: Research and Practice in Thrombosis and Haemostasis
مصطلحات موضوعية: Original Articles: Haemostasis, Serotype, seroprevalence, biology, business.industry, Genetic enhancement, adeno‐associated viral vectors, Hematology, Virus, Viral vector, Cohort, Immunology, biology.protein, Seroprevalence, Medicine, Original Article, hemophilia A, Vector (molecular biology), Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2476659e13f941e87501a741ca0983e5Test
https://doi.org/10.1002/rth2.12177Test -
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المؤلفون: Gavin Arno, Keren J. Carss, Sarah Hull, Ceniz Zihni, Anthony G. Robson, Alessia Fiorentino, Alison J. Hardcastle, Graham E. Holder, Michael E. Cheetham, Vincent Plagnol, Anthony T. Moore, F. Lucy Raymond, Karl Matter, Maria S. Balda, Andrew R. Webster, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Forbes Manson, Panagiotis Sergouniotis, Chris Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James Poulter, Kamron Khan, Emma Lord, Andrea Nemeth, Susan Downes, Stephanie Halford, Jing Yu, Stefano Lise, Nikos Ponitkos, Michel Michaelides, Veronica van Heyningen, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner-Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Virginia Clowes, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Charu Deshpande, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, Frances Flinter, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Neeti Ghali, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Detelina Grozeva, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Simon Holden, Muriel Holder, Susan Holder, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Jane Hurst, Roger James, Stephen Jolles, Dragana Josifova, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Melissa Lees, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Sarju Mehta, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Soo-Mi Park, Alasdair Parker, John Pasi, Chris Patch, Joan Paterson, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Julia Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Elisabeth Rosser, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Alba Sanchis-Juan, Richard Sandford, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Richard Scott, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie Vogt, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Emma Wakeling, Ivy Wanjiku, Timothy Q. Warner, Evangeline Wassmer, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu
المساهمون: Pediatric surgery, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), RS: CARIM - R1.04 - Clinical thrombosis and haemostasis, MUMC+: DA CDL Algemeen (9), Med Microbiol, Infect Dis & Infect Prev
المصدر: UK Inherited Retinal Disease Consortium, NIHR BioResource Rare Diseases Consortium, NIHR BioResource Rare Diseases Consortium & NIHR Bioresource – Rare Diseases Consortium 2017, ' Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration ', American journal of human genetics, vol. 100, no. 2, pp. 334-342 . https://doi.org/10.1016/j.ajhg.2016.12.014Test
American journal of human genetics, vol 100, iss 2
American journal of human genetics, 100(2), 334-342. Cell Press
American Journal of Human Genetics, 100(2), 334-342. Cell Pressمصطلحات موضوعية: Male, 0301 basic medicine, Retinal degeneration, Biallelic Mutation, RHOA, PROTEIN, Eye, Medical and Health Sciences, ACTIVATION, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Missense mutation, Exome, Aetiology, Genetics (clinical), Genetics & Heredity, Genetics, biology, Retinal Degeneration, Cell Polarity, MOSAIC EYES, Biological Sciences, Middle Aged, Phenotype, inherited retinal dystrophy, Pedigree, UK Inherited Retinal Disease Consortium, Female, apicobasal polarity, Retinal Dystrophies, Adult, NIHR Bioresource - Rare Diseases Consortium, ARHGEF18, Genotype, Mutation, Missense, Nerve Tissue Proteins, Retina, 03 medical and health sciences, Rare Diseases, retinitis pigmentosa, Report, CRB1, Retinitis pigmentosa, medicine, Humans, Amino Acid Sequence, Eye Proteins, Eye Disease and Disorders of Vision, Alleles, Human Genome, Neurosciences, Genetic Variation, Membrane Proteins, Epithelial Cells, Retinal, CELL FEATURES, medicine.disease, NUCLEOTIDE EXCHANGE FACTOR, p114RhoGEF, 030104 developmental biology, INTEGRATIVE GENOMICS VIEWER, OKO-MEDUZY, chemistry, Mutation, MORPHOGENESIS, 030221 ophthalmology & optometry, biology.protein, Missense, rhoA GTP-Binding Protein, Rho Guanine Nucleotide Exchange Factors, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4831e3f022992cabfb6e762b39655afTest
https://doi.org/10.1016/j.ajhg.2016.12.014Test -
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المؤلفون: Emily Symington, Michiel Coppens, Michael Wang, Richard S. Lemons, Susan Lattimore, John Pasi, Doris Quon, Michael Recht, Adam S. Kotowski, Paul R. van der Valk, Rashid S. Kazmi, Giancarlo Castaman, Kathelijne Peerlinck, Peter Kampmann, Cedric Hermans, Nigel S. Key, Naghmana Bajma, Robert Klamroth, Steven W. Pipe, Jan Astermark, Robert Gut, Valerie Colletta, Rebecca Kruse-Jarres, Karina Meijer, Allison P. Wheeler, Eileen K. Sawyer, Frank W.G. Leebeek, Niamh M O'Connell, Guy Young, Wolfgang Miesbach, Stephanie Verweij, Miguel A. Escobar, Shelley E. Crary, Nathan Visweshwar, Annette von Drygalski, Esteban Gomez
المساهمون: Hematology
المصدر: Blood, 136. American Society of Hematology
مصطلحات موضوعية: biology, Capsid, business.industry, Genetic enhancement, Immunology, biology.protein, Medicine, Cell Biology, Hematology, Antibody, business, Biochemistry, Virology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cdac23125f77d3ad8b1428f7c86f0f8Test
https://doi.org/10.1182/blood-2020-143560Test -
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المؤلفون: Hua Yu, Michael Laffan, Liron Walsh, Savita Rangarajan, David Perry, Glenn F. Pierce, Christian Vettermann, Wing Yen Wong, K. John Pasi, Will Lester, Bella Madan
مصطلحات موضوعية: 0301 basic medicine, Serotype, Adult, Male, medicine.medical_specialty, Genetic enhancement, VARIANT, Genetic Vectors, Hemorrhage, Antibodies, Viral, Hemophilia A, Gastroenterology, THERAPY, Virus, PROPHYLAXIS, 03 medical and health sciences, Young Adult, Medicine, General & Internal, hemic and lymphatic diseases, Internal medicine, General & Internal Medicine, medicine, MANAGEMENT, Humans, RATES, Young adult, Infusions, Intravenous, 11 Medical and Health Sciences, Factor IX, Science & Technology, Factor VIII, biology, business.industry, General Medicine, FACTOR-IX, Genetic Therapy, Dependovirus, Virus Shedding, Clinical trial, MICE, 030104 developmental biology, Cohort, DNA, Viral, biology.protein, TRIAL, Antibody, business, Life Sciences & Biomedicine, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4024b00e18bbd0f716af1b6f423e6c1dTest
http://hdl.handle.net/10044/1/57163Test -
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المؤلفون: John Pasi, A. M. Cumming, S. Keeney, Peter William Collins, Anne Goodeve
المصدر: Seminars in Thrombosis and Hemostasis. 37:488-494
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, MEDLINE, Haemophilia, Von Willebrand factor, hemic and lymphatic diseases, von Willebrand Factor, medicine, Service planning, Von Willebrand disease, Humans, Deamino Arginine Vasopressin, In patient, Desmopressin, Genetic testing, medicine.diagnostic_test, biology, Coagulants, business.industry, Hematology, medicine.disease, United Kingdom, von Willebrand Diseases, Practice Guidelines as Topic, biology.protein, Guideline Adherence, Cardiology and Cardiovascular Medicine, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32c49bf9a03c3d90443d33da1ec7c934Test
https://doi.org/10.1055/s-0031-1281033Test -
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المؤلفون: Jenny Goudemand, Ian R. Peake, John Pasi, Augusto B. Federici, Javier Batlle, Frank Hill, U. Budde, Claudine Mazurier, Jeroen Eikenboom, Reinhard Schneppenheim, David Habart, Anne Goodeve, K. Bertoncello, Zdena Vorlova, Dominique Meyer, F. Rodeghiero, Jørgen Ingerslev, Giancarlo Castaman, M. Bernardi, Stefan Lethagen, Alberto Tosetto, Lars Holmberg
المصدر: Journal of Thrombosis and Haemostasis. 5:715-721
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Ristocetin cofactor activity, Gastroenterology, Cohort Studies, Sex Factors, Von Willebrand factor, hemic and lymphatic diseases, ABO blood group system, Internal medicine, von Willebrand Factor, Von Willebrand disease, Humans, Medicine, Child, Aged, Aged, 80 and over, biology, business.industry, Age Factors, Infant, Hematology, Middle Aged, medicine.disease, Europe, von Willebrand Diseases, Child, Preschool, Immunology, cardiovascular system, biology.protein, Female, business, circulatory and respiratory physiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f84b3e61b16f787db212f2a257a09724Test
https://doi.org/10.1111/j.1538-7836.2007.02444.xTest -
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المؤلفون: Charles R. M. Hay, Frank Hill, Andrea Guilliatt, Peter William Collins, Pamela Grundy, William Lester, Derrick John Bowen, A. M. Cumming, Stephen Keeney, Said Enayat, John Pasi, Paula H B Bolton-Maggs, David Keeling
المصدر: Thrombosis and Haemostasis. 96:630-641
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Genetic Linkage, DNA Mutational Analysis, Penetrance, Biology, Gene mutation, medicine.disease_cause, Von Willebrand factor, Polymorphism (computer science), hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, medicine, Humans, Family Health, Genetics, Mutation, Polymorphism, Genetic, Haplotype, Hematology, medicine.disease, United Kingdom, Pedigree, von Willebrand Diseases, Haplotypes, Immunology, biology.protein, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49fb43623c88217b1da3de19baf9c78cTest
https://doi.org/10.1160/th06-07-0383Test -
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المؤلفون: R. Campbell Tait, Will Lester, Jonathon T. Wilde, Derrick John Bowen, Frank Hill, Kate Khair, A. M. Cumming, K. John Pasi, Peter William Collins, Pamela Grundy, Paula H. B. Bolton-Maggs, Steven Keeney, David Keeling, Saad M. Enayat
المصدر: British Journal of Haematology. 128:830-836
مصطلحات موضوعية: Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, ADAMTS13 Protein, Enzyme-Linked Immunosorbent Assay, Haemophilia, ABO Blood-Group System, Cohort Studies, Von Willebrand factor, Polymorphism (computer science), hemic and lymphatic diseases, ABO blood group system, medicine, Von Willebrand disease, Coagulopathy, Humans, Genetic Predisposition to Disease, Cysteine, Polymorphism, Genetic, biology, business.industry, ADAMTS, Metalloendopeptidases, Hematology, medicine.disease, ADAMTS13, Pedigree, ADAM Proteins, von Willebrand Diseases, Phenotype, Immunology, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b0ce53ea386ad0e8235ea25ddec826bTest
https://doi.org/10.1111/j.1365-2141.2005.05375.xTest -
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المؤلفون: Karen Dampier, K. John Pasi, Christina Oppenheimer, Tim A. Barnes, Sue Pavord, Paramjeet S. Deol
المصدر: British Journal of Haematology. 127:204-208
مصطلحات موضوعية: Vitamin, medicine.medical_specialty, Pregnancy, biology, medicine.diagnostic_test, business.industry, Hematology, medicine.disease, Gastroenterology, Confidence interval, Thromboelastography, Surgery, chemistry.chemical_compound, Venous thrombosis, chemistry, Internal medicine, Methylenetetrahydrofolate reductase, biology.protein, Medicine, Gestation, Maternal death, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b7f24a5d8bad743cfabc1c24054eb056Test
https://doi.org/10.1111/j.1365-2141.2004.05172.xTest -
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المؤلفون: R. Riat, Sean Platton, P. Batty, John Pasi, Y. ‐H. Chen, C. Burgess, Daniel P. Hart, Kate Khair, Louise Bowles, Ri Liesner
المصدر: Haemophilia : the official journal of the World Federation of Hemophilia. 21(1)
مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Adolescent, Hemorrhage, Haemophilia, Hospitals, University, Tertiary Care Centers, Von Willebrand factor, Dosing schedules, hemic and lymphatic diseases, London, von Willebrand Factor, Von Willebrand disease, Medicine, Humans, Child, Referral and Consultation, Genetics (clinical), Retrospective Studies, Hemostasis, Factor VIII, biology, business.industry, Clinical Laboratory Techniques, Infant, Newborn, Infant, Retrospective cohort study, Hematology, General Medicine, medicine.disease, Drug Combinations, von Willebrand Diseases, Tolerability, Coagulation, Child, Preschool, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf663fa261f44334737cf1be945f0f5Test
https://pubmed.ncbi.nlm.nih.gov/25112927Test