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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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论文共 498 篇作者统计合作学者相似作者

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Rare diseases diagnosed through neonatal screening: Data from the Brazilian rare diseases network
Júlia Cordeiro Milke,Bibiana Mello de Oliveira, Amanda Maria Schmidt, Mariana Lopes dos Santos, Annanda Pink Holtz, Gabriella Zanin Fighera, Betania Ponce, Sofia Simoni Rossi Fermo, Monique Sartori Broch,Milena Artifon, Isadora Viegas, Cláudia Fernandes Lorea,
Molecular Genetics and Metabolismno. 4 (2024): 108337
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Brazilian cohort of patients diagnosed with glucose transporter type 1 deficiency syndrome (GLUT1)
Livia Sobrinho, Lilia Refosco, Fabiano Poswar, Carolina Fischinger Moura de Souza,Ida Vanessa Doederlein Schwartz
Molecular Genetics and Metabolismno. 4 (2024): 108261
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General overview of urea cycle disorders (UCDs) in Brazil
Ida Vanessa Doederlein Schwartz, Mariana Lopes dos Santos, Isabela Alicia Fink, Fernanda Fernanda Hendges de Bitencourt,Fernanda Sperb-Ludwig,Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Fabiano Oliveira Poswar, Marta Wey Vieira, Monica Moretzsohn, Marco Antonio Curiati,Mara Lúcia Schmitz Ferreira Santos,
Molecular Genetics and Metabolismno. 4 (2024): 108217
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PHENYLKETONURIA'S GENETIC LANDSCAPE IN BRAZIL
Rafael Hencke Tresbach, Fernanda Sperb Ludwig, Marta Wey Vieira, Roseli Divino Costa, Pedro Eduardo Bonfim Freitas, Luiz Carlos Santana da Silva, Louise Lapagesse de Camargo Pinto,Marcial Francis Galera,Marcial Francis Galera, Keyla Christy Christine Mendes Sampaio Cunha,Cézar Antônio Abreu de Souza, José Nélio Januário,
Molecular Genetics and Metabolismno. 3 (2023): 107478-107478
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Galactose epimerase deficiency in latin america - unveiling new features
Leonardo Simao Medeiros,Carolina Fischinger Moura De Souza,Osvaldo Artigalas,Marcial Francis Galera, Roseli Divino Costa, Dayse do Valle Oliveira,Jose Elias Garcia-Ortiz, Jesus Real Guerrero, Joao Bosco Oliveira,Ida Vanessa Doederlein Schwartz
MOLECULAR GENETICS AND METABOLISMno. 3 (2023): 91-92
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