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المؤلفون: Anna Middleton, Nicola Taverner, Natalie Moreton, Roberta Rizzo, Catherine Houghton, Catherine Watt, Esther Horton, Sara Levene, Phil Leonard, Athalie Melville, Somya Ellis, Vishakha Tripathi, Christine Patch, Elaine Jenkins
المصدر: European Journal of Human Genetics. 31:13-15
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a46d3d020497ed39b2ceaa743947d5ddTest
https://doi.org/10.1038/s41431-022-01212-9Test -
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المؤلفون: Anna Middleton, Nicola Taverner, Catherine Houghton, Sarah Smithson, Meena Balasubramanian, Frances Elmslie
المساهمون: Middleton, Anna [0000-0003-3103-8098], Taverner, Nicola [0000-0001-5456-597X], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Counselors, Professional Role, Genetics, Humans, Nurses, Genetic Counseling, Genetics (clinical), United Kingdom
وصف الملف: text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f555558df37f3987d32c094a156ffbcTest
https://www.repository.cam.ac.uk/handle/1810/345110Test -
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المؤلفون: Lauren Farley, Dianne Nicol, James Smith, Adrian Thorogood, Jerome Atutornu, Katherine I. Morley, Claire Steed, Heidi Carmen Howard, Christine Critchley, Paul Bevan, Anna Middleton, Barbara Prainsack, Danya F. Vears, Erika Kleiderman, Emilia Niemiec, Peter Goodhand, Richard Milne
المساهمون: Middleton, Anna [0000-0003-3103-8098], Apollo - University of Cambridge Repository
المصدر: Human Genetics
مصطلحات موضوعية: Adult, Male, Medical Ethics, Canada, Genetic Research, Adolescent, Big data, Information Dissemination, Legislation, Biology, Trust, Medicinsk etik, Young Adult, 03 medical and health sciences, Databases, Genetic, Genetics, Humans, Relevance (law), Child, Survey, health care economics and organizations, Genetics (clinical), Original Investigation, 030304 developmental biology, 0303 health sciences, Genome, business.industry, 030305 genetics & heredity, Australia, Genomics, Tvärvetenskapliga studier inom samhällsvetenskap, Middle Aged, Public, Public relations, Donation, Biobank, United Kingdom, United States, Latent class model, 3. Good health, Data sharing, Cross-Sectional Studies, Female, Social Sciences Interdisciplinary, business
وصف الملف: application/pdf; text/xml; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c502886a20a722a41ae8722785316eeTest
https://doi.org/10.1007/s00439-019-02062-0Test -
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المؤلفون: Qurratulain Hasan, Heidi C. Howard, Richard Milne, Lauren Robarts, Jack Pollard, Vigdis Stefansdottir, Vera L. Izhevskaya, Cornelia Tandre, Alexandra Soulier, Jerome Atutornu, Virginia Romano, Claire Steed, Megumi Kimura, Jonathan Roberts, Marie Rivière, Peter Goodhand, A. P. Costa, Charlotta Ingvoldstad Malmgren, Go Yoshizawa, Adrian Thorogood, Josepine Fernow, Aleksandra Jędrzejak, Brandi Leach, Torsten Heinemann, Deborah Mascalzoni, Haytham A. Sheerah, Christine Critchley, Anne V. West, Paul Bevan, Shamim Anwer, Emilia Niemiec, Maria Cerezo, Mohamed A. Almarri, Elena E. Baranova, Yali Cong, Keying Liu, Nan Wang, Erika Kleiderman, Christine Patch, Dianne Nicol, Aiko Hibino, Álvaro Mendes, Katherine I. Morley, Cao Jinhong, Gry Houeland, Jusaku Minari, S. Zakir Hussain, James Smith, Anna Middleton, Barbara Prainsack
المساهمون: Institut d'Histoire et de Philosophie des Sciences et des Techniques (IHPST), Université Paris 1 Panthéon-Sorbonne (UP1)-Centre National de la Recherche Scientifique (CNRS), DILTEC - Didactique des langues, des textes et des cultures - EA 2288 (DILTEC), Université Sorbonne Nouvelle - Paris 3, Milne, Richard [0000-0002-8770-2384], Apollo - University of Cambridge Repository
المصدر: Genome Medicine
Genome Medicine, BioMed Central, 2021, 13, pp.92. ⟨10.1186/s13073-021-00903-0⟩
Genome Medicine, BioMed Central, 2021, 13 (1), ⟨10.1186/s13073-021-00903-0⟩
Genome medicine 13, 92 (2021). doi:10.1186/s13073-021-00903-0
Genome Medicine, Vol 13, Iss 1, Pp 1-12 (2021)مصطلحات موضوعية: Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi, 0301 basic medicine, International surveys, QH426-470, 030105 genetics & heredity, Trust, Online Systems, [SHS.HISPHILSO]Humanities and Social Sciences/History, Philosophy and Sociology of Sciences, 03 medical and health sciences, Surveys and Questionnaires, Genomic data, Genetics, Humans, Sanctions, ddc:610, Public value, Marketing, Molecular Biology, Genetics (clinical), Trustworthiness, Medicinsk genetik, [SDV.GEN]Life Sciences [q-bio]/Genetics, Relative value, [SHS.SOCIO]Humanities and Social Sciences/Sociology, Information Dissemination, Public trust, Research, Genomics, Health Care Service and Management, Health Policy and Services and Health Economy, Transparency (behavior), Genomic research, [SDV.ETH]Life Sciences [q-bio]/Ethics, 3. Good health, Data sharing, 030104 developmental biology, Data access, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Ranking, Medicine, Molecular Medicine, Business, Medical Genetics
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::624a25559396cd2fb1595d4e9b9e3a32Test
https://doi.org/10.1186/s13073-021-00903-0Test -
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المؤلفون: Peter Goodhand, Claire Steed, Jason Bobe, Katherine I. Morley, Richard Milne, Christine Critchley, Danya F. Vears, Erick R. Scott, Jerome Atutornu, Adrian Thorogood, Anna Middleton, Paul Bevan, Emilia Niemiec, Erika Kleiderman, Barbara Prainsack, Heidi Carmen Howard, Laurens Robarts, James Smith, Dianne Nicol
المساهمون: Middleton, Anna [0000-0003-3103-8098], Milne, Richard [0000-0002-8770-2384], Nicol, Dianne [0000-0002-6553-2839], Vears, Danya F. [0000-0002-6290-545X], Apollo - University of Cambridge Repository
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: Adult, Male, Value (ethics), Canada, Health Knowledge, Attitudes, Practice, medicine.medical_specialty, Genomics, Social sciences, 03 medical and health sciences, 706/689/179, Genetics, medicine, Humans, Genetic Testing, Sociology, Genetik, Genetic Privacy, Genetics (clinical), Other Social Sciences, Medicinsk genetik, 030304 developmental biology, Ethics, 0303 health sciences, Participant Values Work Stream of the Global Alliance for Genomics and Health, Genome, Human, Information Dissemination, business.industry, Genetic exceptionalism, 030305 genetics & heredity, Australia, article, 706/689, Middle Aged, Public relations, Publics, United Kingdom, United States, Data sharing, Public Opinion, Donation, Scale (social sciences), Annan samhällsvetenskap, Medical genetics, Female, business, Medical Genetics
وصف الملف: application/zip; application/pdf; text/xml; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::883c0d495f14640aa9176e4d12551cfeTest
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المؤلفون: Anna Middleton
المصدر: Human Molecular Genetics
مصطلحات موضوعية: Big Data, 0301 basic medicine, Big data, Genomics, 030105 genetics & heredity, Biology, Computing Methodologies, 03 medical and health sciences, Order (exchange), Databases, Genetic, Genetics, Humans, Invited Reviews, Molecular Biology, Genetic Association Studies, Genetics (clinical), Genome, Human, Information Dissemination, business.industry, Interpretation (philosophy), General Medicine, Tipping point (climatology), Data science, 3. Good health, 030104 developmental biology, Variation (linguistics), Scale (social sciences), business, Personal genomics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6fc0596660d1f7a11371c58b6a5a2e7Test
https://doi.org/10.1093/hmg/ddy084Test -
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المؤلفون: Anna Middleton, Mercy Y. Laurino, Tina-Marié Wessels, Kelly E. Ormond, Shelley Macaulay, Kristine Barlow-Stewart, Jehannine Austin
المصدر: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
مصطلحات موضوعية: 0301 basic medicine, Canada, Asia, Certification, Genetic counseling, education, Genetic Counseling, 030105 genetics & heredity, Credentialing, 03 medical and health sciences, Cultural diversity, Political science, Genetics, Humans, Healthcare Disparities, Practice Patterns, Physicians', Precision Medicine, Genetics (clinical), Licensure, Government, business.industry, Professional development, Public relations, United States, 3. Good health, Counselors, Commentary, Professional association, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15135013b6887a7027264bb683065d57Test
https://doi.org/10.1002/ajmg.c.31607Test -
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المؤلفون: Anna Middleton, Barbara B. Biesecker, Christine Patch
المصدر: European journal of medical genetics. 62(5)
مصطلحات موضوعية: Medical education, Genetic counseling, Genetics, Genetic Counseling, General Medicine, Sociology, Congresses as Topic, Genetics (clinical), United Kingdom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::222d9fc3c903e22870965b5c19f3a994Test
https://pubmed.ncbi.nlm.nih.gov/31004824Test -
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المؤلفون: Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, 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, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, 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, 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, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, 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, 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, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, 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, 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, Michel Michaelides, 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, Alasdair Parker, John Pasi, Chris Patch, 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, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, 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, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, 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: Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, APH - Quality of Care
المصدر: Gorman, K M, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, K J, Bryant, E, Reich, A, Schneider, A L, Pressler, R M, Simpson, M A, Debelle, G D, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, A R, King, M D, Cross, J H, Poduri, A, Mefford, H C, Scheffer, I E, Haack, T B, McCullagh, G, Deciphering Developmental Disorders Study, NIHR BioResource, UK10K Consortium, Millichap, J J, Carvill, G L, Clayton-Smith, J, Maher, E R, Raymond, F L & Kurian, M A 2019, ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ', American journal of human genetics, vol. 104, no. 5, pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005Test
American journal of human genetics, 104(5), 948-956. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f62e4ecd23096c1d8075fa84911841Test
https://pubmed.ncbi.nlm.nih.gov/30982612Test -
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المؤلفون: Jerome Atutornu, Richard Milne, Paul Bevan, Adrian Thorogood, James Smith, Danya F. Vears, Emilia Niemiec, Claire Steed, Lauren Farley, Katherine I. Morley, Anna Middleton, Barbara Prainsack, Erika Kleiderman, Heidi Carmen Howard
المساهمون: Middleton, Anna [0000-0003-3103-8098], Milne, Richard [0000-0002-8770-2384], Apollo - University of Cambridge Repository
المصدر: European Journal of Medical Genetics
Middleton, A, Milne, R, Thorogood, A, Kleiderman, E, Niemiec, E, Prainsack, B, Farley, L, Bevan, P, Steed, C, Smith, J, Vears, D, Atutornu, J, Howard, H C & Morley, K I 2018, ' Attitudes of publics who are unwilling to donate DNA data for research ', EUROPEAN JOURNAL OF MEDICAL GENETICS . https://doi.org/10.1016/j.ejmg.2018.11.014Testمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Health Knowledge, Attitudes, Practice, GENETICS, GENOMIC RESEARCH, Information Dissemination, DIVERSITY, Social Sciences, INCLUSION, 030105 genetics & heredity, DATABASES, Article, 03 medical and health sciences, Genetic engineering, FEARS, Informed consent, Genetics, Humans, Sociology, Genetic Privacy, Genetics (clinical), EXPECTATIONS, Medicinsk genetik, Genetics & Heredity, Refusal to Participate, Science & Technology, Informed Consent, business.industry, Interpretation (philosophy), Perspective (graphical), Samhällsvetenskap, VIEWS, Human Genetics, General Medicine, Public relations, SERVICES, Middle Aged, Publics, 3. Good health, 030104 developmental biology, Donation, Female, HEALTH, business, Medical Genetics, Life Sciences & Biomedicine, Medical ethics
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78da7f5bb61ea4a0f14cb3d84a4526a2Test
https://pubmed.ncbi.nlm.nih.gov/30476628Test