Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Alison Metcalfe"'
Autor:
Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new
Externí odkaz:
https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52
Publikováno v:
New Genetics and Society, Vol 40, Iss 4, Pp 570-598 (2021)
Genetics is increasingly defining how we understand health and disease, affecting for some, their understanding of inherited disease, and the meaning of medical genetic information. When interpretations of hereditary conditions are determined, partly
Externí odkaz:
https://doaj.org/article/5398554b6e04481c9e9dd2ba5a5badf3
Autor:
Karis K. F. Cheng, Alison Metcalfe
Publikováno v:
International Journal of Qualitative Methods, Vol 17 (2018)
Externí odkaz:
https://doaj.org/article/ccbde283699047dc92c8b6f3d02cced1
Publikováno v:
Cogent Medicine, Vol 5, Iss 1 (2018)
Prostate cancer is the leading cancer for men worldwide, with increasing incidence in Sub-Saharan Africa. In the UK and USA, Black men of different backgrounds are at higher risk of developing prostate cancer but continue to have little involvement w
Externí odkaz:
https://doaj.org/article/d5708194160146e49f08d56837c8a06a
Autor:
Alessia Costa, Věra Franková, Glenn Robert, Milan Macek, Christine Patch, Elizabeth Alexander, Anna Arellanesova, Jill Clayton‑Smith, Amy Hunter, Markéta Havlovicová, Radka Pourová, Marie Pritchard, Lauren Roberts, Veronika Zoubková, Alison Metcalfe
Publikováno v:
Journal of Community Genetics. 13:365-369
Autor:
Alessia Costa, Věra Franková, Glenn Robert, Milan Macek, Christine Patch, Elizabeth Alexander, Anna Arellanesova, Jill Clayton-Smith, Amy Hunter, Markéta Havlovicová, Radka Pourová, Marie Pritchard, Lauren Roberts, Veronika Zoubková, Alison Metcalfe
Publikováno v:
Franková, V, Costa, A, Robert, G, Macek, M, Patch, C, Alexander, E, Arellanesová, A, Clayton-Smith, J, Hunter, A, Havlovicová, M, Pourová, R, Pritchard, M, Roberts, L, Zouboková, V & Metcalfe, A 2022, ' Co-designing models for the communication of genomic results for rare diseases : a comparative study in the Czech Republic and the United Kingdom ', Journal of Community Genetics, vol. 13, no. 3, pp. 313-327 . https://doi.org/10.1007/s12687-022-00589-w
Journal of Community Genetics
Journal of Community Genetics
The communication of genomic results to patients and families with rare diseases raise distinctive challenges. However, there is little evidence about optimal methods to communicate results to this group of service users. To address this gap, we work
Publikováno v:
Macleod, R 2021, ' A family systems approach to genetic counseling; development of narrative interventions ', Journal of Genetic Counselling . https://doi.org/10.1002/jgc4.1377
Journal of Genetic Counseling
Journal of Genetic Counseling
To what extent are family systems approaches relevant in the genomics era? What difference does it make to remember the wider social context within which ‘problems’ associated with a genetic diagnosis reside? How does this influence the conversat
Publikováno v:
Genetic Counseling Practice
Publikováno v:
European Journal of Cardiovascular Nursing. 20
Funding Acknowledgements National Institute for Health Research OnBehalf King"s Health Partners Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group Background Inherited Cardiac Conditions (ICCs) affect up to 1:200 of the popu
Neuromuscular diseases are rare conditions that present with progressive muscular weakness. As affected children transition into adulthood, they become more physically dependent on their families for support. There is little evidence on the family tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fac53c5db0d5dc004c62bbe60e32f023
https://hdl.handle.net/11475/21486
https://hdl.handle.net/11475/21486