Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V)Armstrong, Stephen P ; Seeber, Ruth M ; Ayoub, Mohammed Akli ; Feldman, Brian J ; Pfleger, Kevin D G Fenton, Robert A.PloS one, 2013-06, Vol.8 (6), p.e65885-e65885 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
2 |
Material Type: Artigo
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Hyperosmotic stress reduces melanin production by altering melanosome formationBin, Bum-Ho ; Bhin, Jinhyuk ; Yang, Seung Ha ; Choi, Dong-Hwa ; Park, Kyuhee ; Shin, Dong Wook ; Lee, Ai-Young ; Hwang, Daehee ; Cho, Eun-Gyung ; Lee, Tae Ryong Bassham, DianePloS one, 2014-08, Vol.9 (8), p.e105965-e105965 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
3 |
Material Type: Artigo
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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosisBrasell, Emma J ; Chu, Lee Lee ; Akpa, Murielle M ; Eshkar-Oren, Idit ; Alroy, Iris ; Corsini, Rachel ; Gilfix, Brian M ; Yamanaka, Yojiro ; Huertas, Pedro ; Goodyer, Paul Joles, Jaap A.PloS one, 2019-12, Vol.14 (12), p.e0223954-e0223954 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Human papillomavirus mutational insertion: specific marker of circulating tumor DNA in cervical cancer patientsCampitelli, Maura ; Jeannot, Emmanuelle ; Peter, Martine ; Lappartient, Emmanuelle ; Saada, Stéphanie ; de la Rochefordière, Anne ; Fourchotte, Virginie ; Alran, Séverine ; Petrow, Peter ; Cottu, Paul ; Pierga, Jean-Yves ; Lantz, Olivier ; Couturier, Jérôme ; Sastre-Garau, Xavier Medeiros, RuiPloS one, 2012-08, Vol.7 (8), p.e43393-e43393 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
5 |
Material Type: Artigo
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Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsyChaiyasap, Pongsathorn ; Kulawonganunchai, Supasak ; Srichomthong, Chalurmpon ; Tongsima, Sissades ; Suphapeetiporn, Kanya ; Shotelersuk, Vorasuk Ballestar, EstebanPloS one, 2014-06, Vol.9 (6), p.e100191 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
6 |
Material Type: Artigo
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Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosisChan, Wai-Tsing ; Sherer, Nathan M ; Uchil, Pradeep D ; Novak, Edward K ; Swank, Richard T ; Mothes, Walther Fox, DebbiePloS one, 2008-07, Vol.3 (7), p.e2713-e2713 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
7 |
Material Type: Artigo
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Real-world efficiency of pharmacogenetic screening for carbamazepine-induced severe cutaneous adverse reactionsChen, Zhibin ; Liew, Danny ; Kwan, Patrick Ishii, RyouheiPloS one, 2014-05, Vol.9 (5), p.e96990 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
8 |
Material Type: Artigo
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Association of SNP rs80659072 in the ZRS with polydactyly in Beijing You chickensChu, Qin ; Yan, Zhixun ; Zhang, Jian ; Usman, Tahir ; Zhang, Yao ; Liu, Hui ; Wang, Haihong ; Geng, Ailian ; Liu, Huagui Davoli, RobertaPloS one, 2017-10, Vol.12 (10), p.e0185953-e0185953 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
9 |
Material Type: Artigo
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Human papillomavirus DNA detection in plasma and cervical samples of women with a recent history of low grade or precancerous cervical dysplasiaCocuzza, Clementina Elvezia ; Martinelli, Marianna ; Sina, Federica ; Piana, Andrea ; Sotgiu, Giovanni ; Dell'Anna, Tiziana ; Musumeci, Rosario Consolaro, Marcia Edilaine LopesPloS one, 2017-11, Vol.12 (11), p.e0188592-e0188592 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
10 |
Material Type: Artigo
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High-Accuracy HLA Type Inference from Whole-Genome Sequencing Data Using Population Reference GraphsDilthey, Alexander T ; Gourraud, Pierre-Antoine ; Mentzer, Alexander J ; Cereb, Nezih ; Iqbal, Zamin ; McVean, Gil Franke, AndrePLoS computational biology, 2016-10, Vol.12 (10), p.e1005151-e1005151 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |