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by Burton, Paul R and Clayton, David G and Cardon, Lon R and Craddock, Nick and Deloukas, Panos and Duncanson, Audrey and Kwiatkowski, Dominic P and McCarthy, Mark I and Ouwehand, Willem H and Samani, Nilesh J and Todd, John A and Donnelly, Peter and Barrett, Jeffrey C and Davison, Dan and Easton, Doug and Evans, David and Leung, Hin-Tak and Marchini, Jonathan L and Morris, Andrew P and Spencer, Chris C. A and Tobin, Martin D and Attwood, Antony P and Boorman, James P and Cant, Barbara and Everson, Ursula and Hussey, Judith M and Jolley, Jennifer D and Knight, Alexandra S and Koch, Kerstin and Meech, Elizabeth and Nutland, Sarah and Prowse, Christopher V and Stevens, Helen E and Taylor, Niall C and Walters, Graham R and Walker, Neil M and Watkins, Nicholas A and Winzer, Thilo and Jones, Richard W and McArdle, Wendy L and Ring, Susan M and Strachan, David P and Pembrey, Marcus and Breen, Gerome and St. Clair, David and Caesar, Sian and Gordon-Smith, Katherine and Jones, Lisa and Fraser, Christine and Green, Elaine K and Grozeva, Detelina and Hamshere, Marian L and Holmans, Peter A and Jones, Ian R and Kirov, George and Moskvina, Valentina and Nikolov, Ivan and O'Donovan, Michael C and Owen, Michael J and Collier, David A and Elkin, Amanda and Farmer, Anne and Williamson, Richard and McGuffin, Peter and Young, Allan H and Ferrier, I. Nicol and Ball, Stephen G and Balmforth, Anthony J and Barrett, Jennifer H and Bishop, D. Timothy and Iles, Mark M and Maqbool, Azhar and Yuldasheva, Nadira and Hall, Alistair S and Braund, Peter S and Dixon, Richard J and Mangino, Massimo and Stevens, Suzanne and Thompson, John R and Bredin, Francesca and Tremelling, Mark and Parkes, Miles and Drummond, Hazel and Lees, Charles W and Nimmo, Elaine R and Satsangi, Jack and Fisher, Sheila A and Forbes, Alastair and Lewis, Cathryn M and Onnie, Clive M and Prescott, Natalie J and Sanderson, Jeremy and Mathew, Christopher G and Barbour, Jamie and Mohiuddin, M. Khalid and Todhunter, Catherine E and Mansfield, John C and Ahmad, Tariq and Cummings, Fraser R and Jewell, Derek P and ... and unav and Breast Canc Susceptib Collaborat and Wellcome Trust Case Control Cons and Biol RA Genet & Genom Study and Wellcome Trust Case Control Consortium and The Wellcome Trust Case Control Consortium
Nature (London), ISSN 1476-4687, 2007, Volume 447, Issue 7145, pp. 661 - 678
Journal Article
2001, ISBN 0761919511, xiii, 981
Book
by Wain, Louise V and Verwoert, Germaine C and O'Reilly, Paul F and Shi, Gang and Johnson, Toby and Johnson, Andrew D and Bochud, Murielle and Rice, Kenneth M and Henneman, Peter and Smith, Albert V and Ehret, Georg B and Amin, Najaf and Larson, Martin G and Mooser, Vincent and Hadley, David and Dörr, Marcus and Bis, Joshua C and Aspelund, Thor and Esko, Tõnu and Janssens, A Cecile J W and Zhao, Jing Hua and Heath, Simon and Laan, Maris and Fu, Jingyuan and Pistis, Giorgio and Luan, Jian'an and Arora, Pankaj and Lucas, Gavin and Pirastu, Nicola and Pichler, Irene and Jackson, Anne U and Webster, Rebecca J and Zhang, Feng and Peden, John F and Schmidt, Helena and Tanaka, Toshiko and Campbell, Harry and Igl, Wilmar and Milaneschi, Yuri and Hottenga, Jouke-Jan and Vitart, Veronique and Chasman, Daniel I and Trompet, Stella and Bragg-Gresham, Jennifer L and Alizadeh, Behrooz Z and Chambers, John C and Guo, Xiuqing and Lehtimäki, Terho and Kühnel, Brigitte and Lopez, Lorna M and Polašek, Ozren and Boban, Mladen and Nelson, Christopher P and Morrison, Alanna C and Pihur, Vasyl and Ganesh, Santhi K and Hofman, Albert and Kundu, Suman and Mattace-Raso, Francesco U S and Rivadeneira, Fernando and Sijbrands, Eric J G and Uitterlinden, Andre G and Hwang, Shih-Jen and Vasan, Ramachandran S and Wang, Thomas J and Bergmann, Sven and Vollenweider, Peter and Waeber, Gérard and Laitinen, Jaana and Pouta, Anneli and Zitting, Paavo and McArdle, Wendy L and Kroemer, Heyo K and Völker, Uwe and Völzke, Henry and Glazer, Nicole L and Taylor, Kent D and Harris, Tamara B and Alavere, Helene and Haller, Toomas and Keis, Aime and Tammesoo, Mari-Liis and Aulchenko, Yurii and Barroso, Inês and Khaw, Kay-Tee and Galan, Pilar and Hercberg, Serge and Lathrop, Mark and Eyheramendy, Susana and Org, Elin and Sõber, Siim and Lu, Xiaowen and Nolte, Ilja M and Penninx, Brenda W and Corre, Tanguy and Masciullo, Corrado and Sala, Cinzia and Groop, Leif and Voight, Benjamin F and Melander, Olle and ... and Cardiogenics consortium and AortaGen Consortium and KidneyGen consortium and LifeLines Cohort Study and CHARGE Consortium Heart Failure Working Group and EchoGen consortium and CKDGen consortium and CardioGram and CHARGE Consortium Heart Failure and Cardiogenics Consortium and EchoGen Consortium and KidneyGen Consortium and CKDGen Consortium
Nature genetics, ISSN 1546-1718, 2011, Volume 43, Issue 10, pp. 1005 - 1011
Journal Article
The New England journal of medicine, ISSN 1533-4406, 2017, Volume 377, Issue 4, pp. 338 - 351
Journal Article
Scientific reports, ISSN 2045-2322, 2019, Volume 9, Issue 1, pp. 16576 - 10
...%). TYR was the most commonly mutated gene in this cohort (75% of patients, 9/12). A disease-causing TYR haplotype comprised of two common, functional polymorphisms, TYR c.[575C > A;1205 G > A] p.[(Ser192Tyr);(Arg402GIn... 
VISUAL-EVOKED POTENTIALS | GENOMICS | VARIANTS | OCULOCUTANEOUS ALBINISM | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | FOVEAL HYPOPLASIA | MUTATIONS | P-GENE | ASSOCIATION | PIGMENTATION | Hypoplasia | Optic nerve | Genetic variability | Albinism | Genomes | Ocular albinism | Pigmentation | Genetic screening | Eye | Children | Diagnosis | Genetic counselling | Glutamine
Journal Article
Nature (London), ISSN 1476-4687, 2007, Volume 450, Issue 7171, pp. 887 - 892
Journal Article