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9121por Sterndale, Samantha O., Evans, Danica J., Mansfield, Josephine P., Clarke, Julie, Sahibzada, Shafi, Abraham, Sam, O’Dea, Mark, Miller, David W., Kim, Jae Cheol, Pluske, John R.“…Therefore, results obtained from Sanger sequencing retrospectively allocated pigs into a resistant genotype (MUC4–), in the case of a C nucleotide, and a susceptible genotype (MUC4+), in the case of a G nucleotide, at the single nucleotide polymorphism site. …”
Publicado 2019
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9122por Tan, Manuela M X, Malek, Naveed, Lawton, Michael A, Hubbard, Leon, Pittman, Alan M, Joseph, Theresita, Hehir, Jason, Swallow, Diane M A, Grosset, Katherine A, Marrinan, Sarah L, Bajaj, Nin, Barker, Roger A, Burn, David J, Bresner, Catherine, Foltynie, Thomas, Hardy, John, Wood, Nicholas, Ben-Shlomo, Yoav, Grosset, Donald G, Williams, Nigel M, Morris, Huw R“…A range of methods were used to genotype 2005 patients: 302 young-onset patients were fully genotyped with multiplex ligation-dependent probe amplification and either Sanger and/or exome sequencing; and 1701 late-onset patients were genotyped with the LRRK2 ‘Kompetitive’ allele-specific polymerase chain reaction assay and/or exome sequencing (two patients had missing age at onset). …”
Publicado 2019
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9123por Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee“…METHODS: Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. …”
Publicado 2019
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9124por Diakité, Seidina A. S., Traoré, Karim, Sanogo, Ibrahim, Clark, Taane G., Campino, Susana, Sangaré, Modibo, Dabitao, Djeneba, Dara, Antoine, Konaté, Drissa S., Doucouré, Fousseyni, Cissé, Amadou, Keita, Bourama, Doumbouya, Mory, Guindo, Merepen A., Toure, Mahamoudou B., Sogoba, Nafomon, Doumbia, Seydou, Awandare, Gordon A., Diakité, Mahamadou“…Specific codons were targeted in Pfcrt, Pfmdr1, Pfdhfr, and Pfdhps, Pfarps10, Pfferredoxin, Pfexonuclease and Pfmdr2 genes. The Sanger’s 101-SNPs-barcode method was used to assess the genetic diversity of P. falciparum and to determine the parasite species. …”
Publicado 2019
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9125por Tian, Wo-Tu, Zhan, Fei-Xia, Liu, Qing, Luan, Xing-Hua, Zhang, Chao, Shang, Liang, Zhang, Ben-Yan, Pan, Si-Jian, Miao, Fei, Hu, Jiong, Zhong, Ping, Liu, Shi-Hua, Zhu, Ze-Yu, Zhou, Hai-Yan, Sun, Suya, Liu, Xiao-Li, Huang, Xiao-Jun, Jiang, Jing-Wen, Ma, Jian-Fang, Wang, Ying, Chen, Shu-Fen, Tang, Hui-Dong, Chen, Sheng-Di, Cao, Li“…Next generation sequencing was conducted for 10 probands to confirm the diagnosis. Sanger sequencing, segregation analysis and phenotypic reevaluation were utilized to substantiate findings. …”
Publicado 2019
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9126“…Genotypes of CYP2C19*2, CYP2C19*3, PON-1Q192R were determined using Sanger sequencing in all patients. Various clinical data were collected. …”
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9127por Olbryt, Magdalena, Pigłowski, Wojciech, Rajczykowski, Marcin, Pfeifer, Aleksandra, Student, Sebastian, Fiszer-Kierzkowska, Anna“…The sequences were evaluated for genomic alterations and further validated using Sanger sequencing. RESULTS: Our analysis revealed non-BRAF genetic alterations in 28 out of 37 samples (75.7%). …”
Publicado 2020
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9128por Omodo, Michael, Ar Gouilh, Meriadeg, Mwiine, Frank Norbert, Okurut, Anna Rose Ademun, Nantima, Noelina, Namatovu, Alice, Nakanjako, Maria Flavia, Isingoma, Emmanuel, Arinaitwe, Eugene, Esau, Martin, Kyazze, Simon, Bahati, Milton, Mayanja, Franklin, Bagonza, Patrick, Urri, Richard Akule, Lovincer, Mary Nanfuka, Nabatta, Esther, Kidega, Eugene, Ayebazibwe, Chrisostom, Nakanjako, Gladys, Sserugga, Joseph, Ndumu, Deo Birungi, Mwebe, Robert, Mugabi, Kenneth, Gonzalez, Jean-Paul, Sekamatte, Musa“…Samples were tested using fluorescent antibody test (FAT), One step RT-PCR (following RNA extraction) and partial RABV N gene was sequenced by Sanger method before phylogenetic and phylogeographic analyses of sequences. …”
Publicado 2020
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9129por Rutvisuttinunt, Wiriya, Klungthong, Chonticha, Thaisomboonsuk, Butsaya, Chinnawirotpisan, Piyawan, Ajariyakhajorn, Chuanpis, Manasatienkij, Wudtichai, Phonpakobsin, Thipwipha, Lon, Chanthap, Saunders, David, Wangchuk, Sonam, Shrestha, Sanjaya K., Velasco, John Mark S., Alera, Maria Theresa P., Simasathien, Sriluck, Buddhari, Darunee, Jarman, Richard G., Macareo, Louis R, Yoon, In-Kyu, Fernandez, Stefan“…Individual samples in the positive pools were confirmed by qRT-PCR, RT-PCR, PCR and Sanger sequencing from the CPE culture and original clinical specimens. …”
Publicado 2017
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9130por Pan, Zihao, Cai, Jianye, Lin, Jiatong, Zhou, Huinian, Peng, Jingwen, Liang, Jinliang, Xia, Long, Yin, Qi, Zou, Baojia, Zheng, Jun, Qiao, Liang, Zhang, Lei“…However, it was unclear whether the potential protein encoded by circFNDC3B is involved in carcinogenesis of CC. METHODS: We used Sanger sequence and RNase R digestion assay to confirm the existence of circFNDC3B, and quantitative real-time PCR was used to evaluate the circRNA’s expression. …”
Publicado 2020
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9131por Sapugahawatte, Dulmini Nanayakkara, Li, Carmen, Zhu, Chendi, Dharmaratne, Priyanga, Wong, Kam Tak, Lo, Norman, Ip, Margaret“…ESBL-E and CPE gene groups were detected by multiplex PCR and bla(CTX-M-1/-2/-9) group strains were Sanger sequenced for CTX-M types. All CPE isolates were whole-genome sequenced. …”
Publicado 2020
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9132por Chiang, Jason, Diaz, Alexander K., Makepeace, Lydia, Li, Xiaoyu, Han, Yuanyuan, Li, Yimei, Klimo, Paul, Boop, Frederick A., Baker, Suzanne J., Gajjar, Amar, Merchant, Thomas E., Ellison, David W., Broniscer, Alberto, Patay, Zoltan, Tinkle, Christopher L.“…Neoplasms were characterized by routine histology, immunohistochemistry, interphase fluorescence in situ hybridization, Sanger and next-generation DNA/RNA sequencing, and genome-wide DNA methylome profiling. …”
Publicado 2020
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9133por Cardoso, Lais Cavalca, Narcizo, Amanda de Moraes, Benedetti, Anna Flavia Figueredo, Jorge, Alexander Augusto Lima, Braga, Barbara Leitao, França, Monica Malheiros, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Mendonca, Berenice Bilharinho“…Genomic DNA from 282 patients was extracted from blood sample using standard procedures. Sanger method was previously used to screen some candidate genes in half of the patients. …”
Publicado 2020
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9134por Benedetti, Anna Flavia Figueredo, Silva, Juliana M, Biscotto, Isabela Peixoto, Ferreira, Nathalia Pereira, Arnhold, Ivo J, Mendonca, Berenice Bilharinho, Carvalho, Luciani Renata Silveira“…Family segregation was done using Sanger sequencing. RNA and protein analysis were performed using mfold and YASARA, respectively. …”
Publicado 2020
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9135por Kertsz, Renata, Ferreira, Nathália, Madeira, João L o m, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna, Bissegatto, Débora Delmonte, Camper, Sally, Mendonca, Berenice Bilharinho, Jorge, Alexander, Arnhold, Ivo J p, Carvalho, Luciani Renata Silveira“…Genomic DNA, extracted by salting out technique, was submitted to PCR amplification of 15 coding regions, except CG rich exon 1, of the CDH2 gene followed by the Sanger sequencing. Rare allelic variant frequency (MAF<1%) was searched in the populational data bank (ExAC, gnomAD, ABraom). …”
Publicado 2020
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9136por Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela“…We analyzed 12 patients which have been sent to our laboratory for molecular genetic testing under suspicion of HHR based on clinical phenotype and laboratory studies but with no proven mutation in PHEX gene by Sanger sequencing or MLPA analysis or other hypophosphatemic disorder. …”
Publicado 2020
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9137por Canton, Ana Pinheiro-Machado, Brito, Vinicius Nahime, Montenegro, Luciana Ribeiro, Macedo, Delanie Bulcão, Bessa, Danielle de Souza, Silva, Marina Cunha, Seraphim, Carlos Eduardo, Piovesan, Maiara Ribeiro, Teles, Milena Gurgel, Silveira, Leticia Gontijo, Krepischi, Ana, Netchine, Irene, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia“…Briefly, they were studied as follows: 120 by Sanger sequencing; 18 by target panel sequencing; 27 by whole-exome sequencing; 5 by whole-genome sequencing; 113 by specific DNA methylation analysis; and 38 by genomic microarray. …”
Publicado 2020
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9138por Pereira Ferreira, Nathalia Garcia Bianchi, Madeira, Joao Luiz do Oliveira, Kertsz, Renata, Gergics, Peter, Benedetti, Anna Flavia Figueredo, Biscotto, Isabela Peixoto, Fang, Qing, Ma, Qianyi, Ozel, Bilge Ayse, Li, Jun, Camper, Sally Ann, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Arnhold, Ivo J, Carvalho, Luciani Renata Silveira“…The CDH2 variant is rare and classified as deleterious. Sanger sequencing of CDH2 in four family members of the affected proband revealed that the unaffected parents and two unaffected siblings were heterozygous carriers. …”
Publicado 2020
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9139por Wu, Xilin, Goodchild, Emily, Senanayake, Russell, Bashari, Waiel, Salsbury, Jackie, Argentesi, Giulia, O’Toole, Samuel Matthew, Matson, Matthew, Parvanta, Laila, Marker, Alison, Berney, Daniel, Sadhev, Anju, Bird, Nicholas, McConnachie, Alexander, Cruickshank, Kennedy, Cheow, Heok K, Gurnell, Mark, Drake, William, Brown, Morris Jonathan“…This was confirmed by finding high CYP11B1 and CYP11B2 mRNA expression in her tumour, typical of a KCNJ5 mutation, confirmed as L168R on Sanger sequencing. PA is a high risk subset of hypertension. …”
Publicado 2020
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9140por Petenuci, Janaina, Guimaraes, Augusto, Benedetti, Anna Flavia Figueredo, Fagundes, Gustavo Freitas Cardoso, Pereira, Maria Adelaide, D’Eur, Joya Emilie Correa, Zerbini, Maria Claudia, Siqueira, Sheila, Yamauchi, Fernando, Soares, Silvia, Srougi, Vitor, Tanno, Fabio Y, Chambo, Jose L, Denes, Francisco T, Hoff, Ana O, Latronico, Ana Claudia, Mendonca, Berenice Bilharinho, Fragoso, Maria Candida B V, Almeida, Madson Q“…Genetic investigation was performed in 19 patients: 14 by automated Sanger sequencing (VHL, SDHB, SDHD and RET genes) and 5 by a custom next-generation sequencing (NGS) panel including all genes previously associated with germline mutations in PPGLs. …”
Publicado 2020
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