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Material Type: Artigo
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Advancing genetic testing for deafness with genomic technologyShearer, A Eliot ; Black-Ziegelbein, E Ann ; Hildebrand, Michael S ; Eppsteiner, Robert W ; Ravi, Harini ; Joshi, Swati ; Guiffre, Angelica C ; Sloan, Christina M ; Happe, Scott ; Howard, Susanna D ; Novak, Barbara ; DeLuca, Adam P ; Taylor, Kyle R ; Scheetz, Todd E ; Braun, Terry A ; Casavant, Thomas L ; Kimberling, William J ; LeProust, Emily M ; Smith, Richard J HJournal of medical genetics, 2013-09, Vol.50 (9), p.627-634 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndromeHan, Rui ; Xia, Yan ; Liu, Zhijuan ; Wu, Shuang ; Ye, Erdengqieqieke ; Duan, Ling ; Ding, Jianbing ; La, XiaolinMedicine (Baltimore), 2021-06, Vol.100 (25), p.e24691-e24691 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto completo disponível |
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Material Type: Artigo
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Comparison of ultraconserved elements (UCEs) to microsatellite markers for the study of avian hybrid zones: a test in Aphelocoma jaysVinciguerra, Nicholas T ; Tsai, Whitney L E ; Faircloth, Brant C ; McCormack, John EBMC research notes, 2019-07, Vol.12 (1), p.456-456, Article 456 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Targeted resequencing of a genomic region influencing tameness and aggression reveals multiple signals of positive selectionAlbert, F W ; Hodges, E ; Jensen, J D ; Besnier, F ; Xuan, Z ; Rooks, M ; Bhattacharjee, A ; Brizuela, L ; Good, J M ; Green, R E ; Burbano, H A ; Plyusnina, I Z ; Trut, L ; Andersson, L ; Schöneberg, T ; Carlborg, O ; Hannon, G J ; Pääbo, SHeredity, 2011-09, Vol.107 (3), p.205-214 [Periódico revisado por pares]England: Springer Nature B.VTexto completo disponível |
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Material Type: Artigo
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A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regionsSELMER, Kaja K ; GILFILLAN, Gregor D ; MUNTHE, Ludvig A ; BRAEKKEN, Sigrun K ; UNDLIEN, Dag E ; STRØMME, Petter ; LYLE, Robert ; HUGHES, Timothy ; HJORTHAUG, Hanne S ; BRANDAL, Kristin ; NAKKEN, Sigve ; MISCEO, Doriana ; EGELAND, ThoreEuropean journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.58-63 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-upSethi, Sanjeev ; Fervenza, Fernando C. ; Zhang, Yuzhou ; Zand, Ladan ; Vrana, Julie A. ; Nasr, Samih H. ; Theis, Jason D. ; Dogan, Ahmet ; Smith, Richard J.H.Kidney international, 2012-08, Vol.82 (4), p.465-473 [Periódico revisado por pares]Basingstoke: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Ancestral capture of syncytin-Car1, a fusogenic endogenous retroviral envelope gene involved in placentation and conserved in CarnivoraCornelis, Guillaume ; Heidmann, Odile ; Bernard-Stoecklin, Sibylle ; Reynaud, Karine ; Véron, Géraldine ; Mulot, Baptiste ; Dupressoir, Anne ; Heidmann, ThierryProceedings of the National Academy of Sciences - PNAS, 2012-02, Vol.109 (7), p.E432-E441 [Periódico revisado por pares]United States: National Acad SciencesTexto completo disponível |
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Material Type: Artigo
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Intratumoral Heterogeneity of ALK-Rearranged and ALK/EGFR Coaltered Lung AdenocarcinomaCai, Weijing ; Lin, Dongmei ; Wu, Chunyan ; Li, Xuefei ; Zhao, Chao ; Zheng, Limou ; Chuai, Shannon ; Fei, Ke ; Zhou, Caicun ; Hirsch, Fred RJournal of clinical oncology, 2015-11, Vol.33 (32), p.3701-3709 [Periódico revisado por pares]United States: American Society of Clinical OncologyTexto completo disponível |
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9 |
Material Type: Artigo
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Identification of novel immune and barrier genes in atopic dermatitis by means of laser capture microdissectionEsaki, Hitokazu, MD ; Ewald, David A., MSc ; Ungar, Benjamin, BA ; Rozenblit, Mariya, BA ; Zheng, Xiuzhong, MSc ; Xu, Hui, MSc ; Estrada, Yeriel D., BS ; Peng, Xiangyu, MSc ; Mitsui, Hiroshi, MD, PhD ; Litman, Thomas, PhD ; Suárez-Fariñas, Mayte, PhD ; Krueger, James G., MD, PhD ; Guttman-Yassky, Emma, MD, PhDJournal of allergy and clinical immunology, 2015-01, Vol.135 (1), p.153-163 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Exome sequencing generates high quality data in non-target regionsGuo, Yan ; Long, Jirong ; He, Jing ; Li, Chung-I ; Cai, Qiuyin ; Shu, Xiao-Ou ; Zheng, Wei ; Li, ChunBMC genomics, 2012-05, Vol.13 (1), p.194-194, Article 194 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |