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1دورية أكاديمية
المؤلفون: Ingrid Petroni Ewald, Silvia Liliana Cossio, Edenir Inez Palmero, Manuela Pinheiro, Ivana Lucia de Oliveira Nascimento, Taisa Manuela Bonfim Machado, Kiyoko Abe Sandes, Betânia Toralles, Bernardo Garicochea, Patricia Izetti, Maria Luiza Saraiva Pereira, Hugo Bock, Fernando Regla Vargas, Miguel Ângelo Martins Moreira, Ana Peixoto, Manuel R. Teixeira, Patricia Ashton-Prolla
المصدر: Genetics and Molecular Biology, Vol 39, Iss 2, Pp 223-231 (2016)
مصطلحات موضوعية: Breast cancer, Hereditary Breast and Ovarian Cancer syndrome, gene rearrangements, BRCA gene, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200223&tlng=enTest; http://www.scielo.br/pdf/gmb/v39n2/1415-4757-gmb-39-02-0223.pdfTest; https://doaj.org/toc/1678-4685Test
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2دورية أكاديمية
المؤلفون: Lucas Schenatto Sena, Renan Barbosa Lemes, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: allele dynamics, Machado-Joseph disease, mathematical model, polyglutamine diseases, spinocerebellar ataxia type 2, spinocerebellar ataxia type 3, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1296614/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jácome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrícia Maciel, Manuela Lima
المصدر: Neurobiology of Disease, Vol 162, Iss , Pp 105578- (2022)
مصطلحات موضوعية: MJD, SCA3, Spinocerebellar ataxia, Polyglutamine disease, Age at onset, Genetic modifier, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996121003272Test; https://doaj.org/toc/1095-953XTest; https://doaj.org/article/092ddc3822fc493ea73849aef1ba8fc6Test
الإتاحة: https://doi.org/10.1016/j.nbd.2021.105578Test
https://doaj.org/article/092ddc3822fc493ea73849aef1ba8fc6Test -
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المؤلفون: Camila Maria de Oliveira, Vanessa Bielefeldt Leotti, Sandra Polita, Mauricio Anes, Amanda Henz Cappelli, Anastacia Guimarães Rocha, Gabriela Ecco, Gabriela Bolzan, Nathalia Kersting, Juliana Avila Duarte, Maria-Luiza Saraiva-Pereira, Marcondes Cavalcante França Junior, Thiago Junqueira Ribeiro Rezende, Laura Bannach Jardim
المصدر: Journal of Neurology.
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7070650cc794dd6a3750895b3cc511feTest
https://doi.org/10.1007/s00415-023-11763-6Test -
5دورية أكاديمية
المؤلفون: Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, Rede NEUROGENÉTICA
المصدر: Arquivos de Neuro-Psiquiatria, Vol 78, Iss 2, Pp 81-87 (2020)
مصطلحات موضوعية: Biomarkers, Amino Acids, Branched-Chain, Carnitine, Huntington Disease, Weight Loss, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2020000200081&tlng=enTest; http://www.scielo.br/pdf/anp/v78n2/1678-4227-anp-78-02-81.pdfTest; https://doaj.org/toc/1678-4227Test; https://doaj.org/article/0a775c15e7a645eb8c1bf15230a492e3Test
الإتاحة: https://doi.org/10.1590/0004-282x20190152Test
https://doaj.org/article/0a775c15e7a645eb8c1bf15230a492e3Test -
6دورية أكاديمية
المؤلفون: Thais Lampert Monte, Estela da Rosa Reckziegel, Marina Coutinho Augustin, Lucas D. Locks-Coelho, Amanda Senna P. Santos, Gabriel Vasata Furtado, Eduardo Preusser de Mattos, José Luiz Pedroso, Orlando Póvoas Barsottini, Fernando Regla Vargas, Maria-Luiza Saraiva-Pereira, Suzi Alves Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, on behalf of Rede Neurogenética
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
مصطلحات موضوعية: Natural history, NESSCA, Progression rate, SARA, SCAFI, Spinocerebellar ataxia type 2, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-017-0725-yTest; https://doaj.org/toc/1750-1172Test
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المؤلفون: Elaine Cristina Miglorini, Vanessa Brzoskowski dos Santos, Maria Luiza Saraiva-Pereira, Vanessa Bielefeldt Leotti, Maira Rozenfeld Olchik, Laura Bannach Jardim
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::39fc4a682149f5e1d4149db0f468a3a7Test
https://doi.org/10.21203/rs.3.rs-2565994/v1Test -
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المؤلفون: Jordânia dos Santos Pinheiro, Lucas Schenatto Sena, Karina Carvalho Donis, Gabriel Vasata Furtado, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim
المصدر: The Cerebellum. 22:348-354
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b368047a72780e9ca51f5228325024fTest
https://doi.org/10.1007/s12311-022-01404-5Test -
9دورية أكاديمية
المؤلفون: Roberto Giugliani, Fernanda Bender, Rowena Couto, Aline Bochernitsan, Ana Carolina Brusius-Facchin, Maira Burin, Tatiana Amorim, Angelina Xavier Acosta, Antônio Purificação, Sandra Leistner-Segal, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Ursula Matte, Mariluce Riegel, Augusto César Cardoso-dos-Santos, Graziella Rodrigues, Marcelo Zagonel de Oliveira, Alice Tagliani-Ribeiro, Selia Heck, Vanusa Dresch, Lavínia Schuler-Faccini, Francyne Kubaski
المصدر: Genetics and Molecular Biology, Iss 0 (2019)
مصطلحات موضوعية: Population Medical Genetics, genetic clusters, founder effect, population isolates, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012101&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test
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10دورية أكاديمية
المؤلفون: Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani
المصدر: Genetics and Molecular Biology, Iss 0 (2019)
مصطلحات موضوعية: Ion Torrent, molecular diagnostics, next-generation sequencing, lysosomal storage disorders, validation, Genetics, QH426-470
العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005013102&lng=en&tlng=enTest; https://doaj.org/toc/1678-4685Test; https://doaj.org/article/b711a73e6ece42439f78bc2a1557738cTest
الإتاحة: https://doi.org/10.1590/1678-4685-gmb-2018-0092Test
https://doaj.org/article/b711a73e6ece42439f78bc2a1557738cTest