Wait time reality check: The convergence of process, perception, and expectation

Autor: Lorianne Classen, Erika Diaz, Marian Hill, Andrea Romay

Publikováno v: Patient Experience Journal (2018)

There are few experiences as ubiquitous to patients as the experience of waiting. It is an occurrence that transcends diagnosis, is common to all demographics, and is shared across the continuum of care. The experience can be frustrating and full of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65adffc7f38b8e5b617e4ad37fbf8ea
https://doi.org/10.35680/2372-0247.1284

List of Contributors

Autor: Samuel Alam, Bibek Gooptu, Marian Hill, James A. Irving, Alistair Jagger, Sabina Janciauskiene, Noor Kalsheker, David A. Lomas, Ravi Mahadeva, David Parr, S. Tamir Rashid, Robert A. Sandhaus, Robert Stockley, Jan Stolk, James K. Stoller, Charlie Strange, Tomas Sveger, Jeffrey H. Teckman, Alice Turner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::970a5b144dd8a9eb6827a289a7d825db
https://doi.org/10.1016/b978-0-12-803942-7.00019-2

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

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

Publikováno v: Blood
Blood, American Society of Hematology, 2016, 127 (23), pp.2791-803. ⟨10.1182/blood-2015-12-688267⟩
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, P, Daugherty, L C, Favier, R, French, D L, Furie, B, Gattens, M, Germeshausen, M, Ghevaert, C, Goodeve, A, Guerrero, J, Hampshire, D J, Hart, D P, Heemskerk, J W M, Henskens, Y M C, Hill, M, Hogg, N, Jolley, J D, Kahr, W H, Kelly, A M, Kerr, R, Kostadima, M, Kunishima, S, Lambert, M P, Liesner, R, Lopez, J, Mapeta, R P, Mathias, M, Millar, C M, Nathwani, A, Neerman-Arbez, M, Nurden, A T, Nurden, P, Othman, M, Peerlinck, K, Perry, D J, Poudel, P, Reitsma, P, Rondina, M, Smethurst, P A, Stevenson, W, Szkotak, A, Tuna, S, van Geet, C, Whitehorn, D, Wilcox, D A, Zhang, B, Revel-Vilk, S, Gresele, P, Bellissimo, D, Penkett, C J, Laffan, M A, Mumford, A D, Rendon, A, Gomez, K, Freson, K, Ouwehand, W H & Turro, E 2016, ' A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorderdisorders ', Blood, vol. 127, no. 23, pp. 2791-2803 . https://doi.org/10.1182/blood-2015-12-688267
Blood, 127(23), 2791-2803
Blood, 127(23), 2791-2803. The American Society of Hematology

Inherited bleeding, thrombotic and platelet disorders (BPDs) are diseases affecting approximately 300 individuals per million births. With the exception of haemophilia and von Willebrand disease patients, a molecular analysis for patients with a BPD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa352cd1eafdc5697d70b553f05b0503
http://hdl.handle.net/11391/1386441

Structural Dynamics Associated with Intermediate Formation in an Archetypal Conformational Disease

Autor: Lakshmi Segu, John Kirkpatrick, Konstantinos Thalassinos, Mun Peak Nyon, Benoit D. Roussel, Noor Kalsheker, Anathe O.M. Patschull, Christopher A. Waudby, Tracey E. Barrett, Geraldine Levy, David A. Lomas, John Christodoulou, Bibek Gooptu, Richard A. Kerr, Lisa D. Cabrita, Ugo I. Ekeowa, Marian Hill

Publikováno v: Structure(London, England:1993)

Summary In conformational diseases, native protein conformers convert to pathological intermediates that polymerize. Structural characterization of these key intermediates is challenging. They are unstable and minimally populated in dynamic equilibri

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Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion

Autor: Hester A. Franks, Marian Hill, Gerry Dolan, Fiona McLeod, Ben Gordon

Publikováno v: British Journal of Haematology. 129:825-829

The genetic basis of factor XI (FXI) deficiency was investigated in 30 patients from 13 different families of non-Jewish origin. Twelve different mutations were detected (including six novel changes), seven missense mutations and three mutations lead

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b952e47648bdb75cc835a32da06d29
https://doi.org/10.1111/j.1365-2141.2005.05536.x