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by Thwaites, Guy E and Scarborough, Matthew and Szubert, Alexander and Nsutebu, Emmanuel and Tilley, Robert and Greig, Julia and Wyllie, Sarah A and Wilson, Peter and Auckland, Cressida and Cairns, Janet and Ward, Denise and Lal, Pankaj and Guleri, Achyut and Jenkins, Neil and Sutton, Julian and Wiselka, Martin and Armando, Gonzalez-Ruiz and Graham, Clive and Chadwick, Paul R and Barlow, Gavin and Gordon, N Claire and Young, Bernadette and Meisner, Sarah and McWhinney, Paul and Price, David A and Harvey, David and Nayar, Deepa and Jeyaratnam, Dakshika and Planche, Tim and Minton, Jane and Hudson, Fleur and Hopkins, Susan and Williams, John and Török, M Estee and Llewelyn, Martin J and Edgeworth, Jonathan D and Walker, A Sarah and Kamfose, Musa and de Veciana, Ana and Gordon, Nicola Claire and Peto, Leon and Pill, Gemma and Clarke, Tiphanie and Watson, Laura and Griffiths, Dai and Vaughn, Ali and Anson, Luke and Liu, Elian and Perera, Sanuki and Rylance-Knight, Lydia and Cantell, Carmen and Moroney, Ruth and Thwaites, Guy and Bisnauthsing, Karen and Querol-Rubiera, Antonio and Gibbs, Charlotte and Patel, Amita and Hemsley, Carolyn and Goodman, Anna L and Wyncoll, Duncan and Biswas, Jason and Fitzpatrick, Jennifer and Roberts, Lizzie and Millard, James and Stone, Neil and Cape, Angela and Hurley, Lisa and Tam, Chi Kai and Hoyle, Marie-Claire and Maitland, Kate and Trainor, Leona and Reynolds, Helen and Harrison, Jennifer and Anson, Jim and Lewis, Joseph and Folb, Jonathan and Goodwin, Lynsey and Beeching, Nicholas and Dyas, Sarah and Winslow, Helen and Foote, Elizabeth and Roberts, Paul and Natarajan, Pavithra and Chrdle, Alex and Fenech, Manuel and Allsop, Hannah and Austin-Hutchison, Rachel and Barrett, Louise and Brookes, Karen and Carwithen, Leanne and Conbeer, Andrew and Cunningham, Richard and Eglinton, Charlotte and Fok, Rosie and Gott, Hannah and Hughes, Shona and Jones, Lewis and Kalita, Maggie and King, Angela and March, Linda and ... and United Kingdom Clinical Infection Research Group (UKCIRG) and UKCIRG
The Lancet (British edition), ISSN 0140-6736, 02/2018, Volume 391, Issue 10121, pp. 668 - 678
Journal Article
Nature (London), ISSN 0028-0836, 2020, Volume 583, Issue 7814, pp. 96 - 102
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders... 
General | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Disease | Transcription | Genes | Blood cells | Genomics | Erythrocytes | Genomes | Genetic screening | Gene sequencing | Diseases | GATA-1 protein | Genotype & phenotype | Red blood cells | Etiology | Biobanks | Mutation | Diagnosis | Index Medicus | Allmän medicin | Family Medicine
Journal Article
Library & information science research, ISSN 0740-8188, 11/2000, Volume 22, Issue 4, pp. 431 - 433
Journal Article
by Roeters, Anne and Shi, Qiuling and Rustøen, Tone and Valeberg, Berit Taraldsen and Nordstokke, David and Stelnicki, Andrea M and Olson, Karin and Hill, Roderick and Martin, Mike W and Nordstokke, David and Mustillo, Sarah and Bradshaw, Kelsey M and Donohue, Brad and Fontainha, Elsa and Casas, Ferran and Lodge, Amy C and Leung, Cynthia and Tsang Kit Man, Sandra and Crespo, Carla and Silva, Neuza and Jenkinson, Crispin and Dubayova, Tatiana and Hallo, Jeffrey and Anderson, Laura and Valliere, William and Piedmont, Ralph L and Fattore, Marco and Abbott, Katherine and Christens, Brian D and Tran Inzeo, Paula and Iafrate, Raffaella and Donato, Silvia and Bertoni, Anna and Anderson, Kristin L and Pernod, Martine and Skolasky, Richard L and Garratt, Andrew and Delle Fave, Antonella and Misra, Girishwar and Bassi, Marta and Delle Fave, Antonella and Upton, Penney and Varni, James W and Mounts, Nina S and Walters, Tracy and Hinkle, Henry and Purnomo, Julianita and Claes, Claudia and Fulmer, Sara M and Peiró, Jose María and Martínez-Tur, Vicente and Moliner, Carolina and Verme, Paolo and Jeffres, Leo W and Liao, Pei-Shan and Patrick, Donald L and Roccato, Michele and Russo, Silvia and Vieno, Alessio and Jany-Catrice, Florence and Wills-Herrera, Eduardo and Juckel, Georg and Kleinplatz, Peggy J and Ménard, A. Dana and Wannamaker, Christopher and Launeanu, Mihaela and Michalos, Alex C and Vittersø, Joar and Suter, Christian and Hasberg, Ruth and van Loon, Jos and Little, Brian and Musek, Janek and Polic, Marko and Xing, Zhanjun and Ganglmair-Wooliscroft, Alexandra and Vaqué Crusellas, Cristina and Vaqué Crusellas, Cristina and Eklund, Mona and Piedmont, Ralph L and Wood, Alex M and Boyce, Christopher J and Pasca, Romana and Chi, Nai-Wen and Casas, Ferran and Allen, Karen and Fuentes-García, Alejandra and Dias, João Marcos and Barnett, Anthony and Ashing, Kimlin Tam and Rosales, Monica and Yeung, Sophia and Estes, Richard J and Capio, Catherine M and Sit, Cindy H. P and Abernethy, Bruce and Gaffey, Allison E and Wirth, Michelle M and Schleicher, Andreas and Thorn, William and ...
ISBN 9400707525
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