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1 |
Material Type: Artigo de Congresso
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Transcriptome reveals miRNA-mRNA signatures associated with three conditions of azoospermiaJ. V. W Cachay Wester C Dias; Wilson Araújo da Silva Júnior; Alfredo Ribeiro da Silva; João Monteiro de Pina Neto; International Congress of Genetics (22. 2018 Foz do Iguaçu)Abstracts Foz do Iguaçu : SBG, 2018Foz do Iguaçu SBG 2018Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2937476 Estantes Deslizantes )(Acessar) |
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2 |
Material Type: Artigo de Congresso
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Haplotypes linked to the X chromosome in paternity investigation in incomplete casesI. C. D. Alcarás Aguinaldo Luiz Simões; Brazilian-International Congress of Genetics (62. 2016 Caxambu)Abstracts Caxambu : SBG, 2016Caxambu SBG 2016Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2875788 Estantes Deslizantes )(Acessar) |
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3 |
Material Type: Artigo de Congresso
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Synthetic biology in the high school in BrazilC Paris L. M Bimbati; Aparecida Maria Fontes; International Congress of Genetics (22. 2018 Foz do Iguaçu)Abstracts Foz do Iguaçu : SBG, 2018Foz do Iguaçu SBG 2018Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2937482 Estantes Deslizantes )(Acessar) |
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4 |
Material Type: Artigo
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1165 The wales infants’ and children’s genome service’ (WINGS): diagnostic rapid whole genome sequencing for unwell children with a suspected rare genetic diagnosisMurch, Oliver ; Jezkova, Jana ; Halstead, Joseph ; Burke, Katherine ; Oruganti, Siva ; Calvert, Jennifer ; Evans, Jennifer ; Williams, Hywel ; Sansbury, Francis ; Corrin, Sian ; Sloper, EmilyArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A256-A256 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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5 |
Material Type: Artigo
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101 Inherited autoinflammatory encephalopathy in the differential diagnosis of conatal viral infections- newborn with Aicardi-Goutières syndromeBulić, Dora ; Škorić, Tea ; Žigman, Tamara ; Krnjak, Goran ; Tešović, Goran ; Barišić, Nina ; Barić, Ivo ; Ramadža, Danijela PetkovićArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A43-A43 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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6 |
Material Type: Artigo
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159 Severe presentation of Netherton syndrome: a case reportGagro, Alenka ; Pustišek, Nives ; Ožanić, Suzana Bulić ; Niseteo, Tena ; Sila, Sara ; Kolaček, Sanja ; Barišić, IngeborgArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A67-A68 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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7 |
Material Type: Artigo
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90 The first clinical case of rare form of focal epilepsy caused by the novel mutation in the NPRL3 gene in Russian federation and kazakhstanKirill, Savostyanov ; Alisa, Nauryzbayeva ; Oksana, Globa ; Alexander, Pushkov ; Lyudmila, Kuzenkova ; Olga, Kondakova ; Alexander, Pakhomov ; Lyubov, Muraveva ; Andrey, Fisenko ; Jaxybayeva, AltynshashArchives of disease in childhood, 2021-10, Vol.106 (Suppl 2), p.A38-A38 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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8 |
Material Type: Artigo
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1435 Rapid exome sequencing in acutely unwell children – providing new diagnostic options in intensive care settingsMcDermott, Helen ; Baple, Emma ; Ellard, Sian ; Naik, SwatiArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A368-A369 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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9 |
Material Type: Artigo
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966 Genetic variations causing neonatal diabetes mellitusElemam, Hazem Helmy ; Allman, Anneli ; Hawkes, DavidaArchives of disease in childhood, 2021-10, Vol.106 (Suppl 1), p.A177-A178 [Periódico revisado por pares]London: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponível |
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10 |
Material Type: Artigo
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O4 Amino acid substitution in genotype 3a hepatitis C virus polymerase protein affects responses to sofosbuvir and interferon alpha and inhibits apoptosisLee, Wing-yiu Jason ; Jones, Meleri ; Wing, Peter AC ; Rajagopal, Swathi ; Foster, Graham RGut, 2020-09, Vol.69 (Suppl 1), p.A2-A3 [Periódico revisado por pares]London: BMJ Publishing Group LTDTexto completo disponível |