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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jové-Buxeda E, Sanchez-Delgado J, Baena-Díez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M. Vila Cuenca M, et al. Among authors: bignell p. Int J Mol Sci. 2020 Mar 30;21(7):2374. doi: 10.3390/ijms21072374. Int J Mol Sci. 2020. PMID: 32235485 Free PMC article.
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G. Taylor JC, et al. Among authors: bignell p. Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18. Nat Genet. 2015. PMID: 25985138 Free PMC article.
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