检索结果 - Llerena, Juan

Optimization of RT-PCR reactions in studies with genes of lignin biosynthetic route in Saccharum spontaneum 由 LLERENA, JUAN P.P., ARAÚJO, PEDRO, MAZZAFERA, PAULO

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Diel oscillations in cell wall components and soluble sugars as a response to short-day in sugarcane (Saccharum sp.) 由 Alves, Leonardo Cardoso, Llerena, Juan Pablo Portilla, Mazzafera, Paulo, Vicentini, Renato

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Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic 由 Horovitz, Dafne Dain Gandelman, Barth, Anneliese Lopes, Alves, Welton Correia, Llerena, Juan Clinton

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Geleophysic dysplasia: Report on two sibs 由 Boy, Raquel, Llerena, Juan, Pimentel, Márcia Mattos Gonçalves, Almeida, José Carlos Cabral de

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Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular 由 Boy, Raquel, Correia, Patrícia Santana, Llerena, Juan Clinton, Machado-Ferreira, Maria do Carmo, Pimentel, Márcia Mattos Gonçalves

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Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies 由 Fano, Virginia, Kim, Chong A., Rosselli, Pablo, Dib, Regina El, Shediac, Renée, Magalhães, Tatiana, Mesojedovas, Debora, Llerena, Juan

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Breast Imaging: How We Manage Diagnostic Technology at a Multidisciplinary Breast Center 由 Tejerina Bernal, Alejandro, Tejerina Bernal, Antonio, Rabadán Doreste, Francisco, De Lara González, Ana, Roselló Llerena, Juan Antonio, Tejerina Gómez, Armando

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Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy 由 Moraes, Lucia M, Cardoso, Leila CA, Moura, Vera LS, Moreira, Miguel AM, Menezes, Albert N, Llerena, Juan C, Seuánez, Héctor N

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Microdeletion and Microduplication Syndromes 由 Weise, Anja, Mrasek, Kristin, Klein, Elisabeth, Mulatinho, Milene, Llerena, Juan C., Hardekopf, David, Pekova, Sona, Bhatt, Samarth, Kosyakova, Nadezda, Liehr, Thomas

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Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil 由 Vieira, Daniela Koeller Rodrigues, Attianezi, Margareth, Esposito, Ana Carolina, Barth, Anneliese, Sequeira, Cecília, Krause, Nathália, Oliveira, Vivian, Lucidi, Alexandre, Serao, Cassio, Llerena, Juan C.

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Chromosome 6q deletion: Report of a new case and review of the literature 由 Boy, Raquel, Pimentel, Márcia Mattos Gonçalves, Hemerly, Ana Paula, Silva, Maria do Perpétuo Socorro, Barreiro, Ana Paula, Almeida, José Carlos Cabral de, Llerena, Juan

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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report 由 Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Juan Clinton

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Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil 由 Sixel, Bruna de Souza, da Silva, Luanda Dias, Cavalcanti, Nicolette Celani, Penque, Glória Maria Cardoso de Andrade, Lisboa, Sandra, Horovitz, Dafne Dain Gandelman, Llerena, Juan Clinton

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Deposition of lignin in four species of Saccharum 由 Llerena, Juan Pablo Portilla, Figueiredo, Raquel, Brito, Michael dos Santos, Kiyota, Eduardo, Mayer, Juliana Lischka Sampaio, Araujo, Pedro, Schimpl, Flavia Camila, Dama, Murali, Pauly, Markus, Mazzafera, Paulo

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miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes 由 de Carvalho, Joseane Biso, de Morais, Guilherme Loss, Vieira, Thays Cristine dos Santos, Rabelo, Natana Chaves, Llerena, Juan Clinton, Gonzalez, Sayonara Maria de Carvalho, de Vasconcelos, Ana Tereza Ribeiro

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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment star... 由 Stockton, David W., Kishnani, Priya, van der Ploeg, Ans, Llerena, Juan, Boentert, Matthias, Roberts, Mark, Byrne, Barry J., Araujo, Roberto, Maruti, Sonia S., Thibault, Nathan, Verhulst, Karien, Berger, Kenneth I.

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A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease 由 Dornelles, Alícia Dorneles, Junges, Ana Paula Pedroso, Pereira, Tiago Veiga, Krug, Bárbara Corrêa, Gonçalves, Candice Beatriz Treter, Llerena, Juan Clinton, Kishnani, Priya Sunil, de Oliveira, Haliton Alves, Schwartz, Ida Vanessa Doederlein

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A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients 由 Ribeiro Ferreira, Igor, Darleans dos Santos Cunha, Wilton, Henrique Ferreira Gomes, Leonardo, Azevedo Cintra, Hiago, Lopes Cabral Guimarães Fonseca, Letícia, Ferreira Bastos, Elenice, Clinton Llerena, Juan, Farias Meira de Vasconcelos, Zilton, da Cunha Guida, Letícia

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A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin: HCM-FISH 由 Bucksch, Maria, Ziegler, Monika, Kosayakova, Nadezda, Mulatinho, Milene V., Llerena, Juan C., Morlot, Susanne, Fischer, Wolfgang, Polityko, Anna D., Kulpanovich, Anna I., Petersen, Michael B., Belitz, Britta, Trifonov, Vladimir, Weise, Anja, Liehr, Thomas, Hamid, Ahmed B.

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry 由 Reuser, Arnold J. J., van der Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites

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