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Sandra Alves
Instituto Politécnico Nacional
Cancer researchRNA splicingSense (molecular biology)MedicineBiology
43Publications
2H-index
17Citations
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Publications 43
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Last. Sandra AlvesH-Index: 2
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Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic odyssey”, which frequently afflicts affected families, the proband’s sample was simultaneously screened for mutations in a number of lysosomal function-related genes with targeted next-generation sequen...
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Last. Sandra AlvesH-Index: 2
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Estudo financiado pelo Programa NORTE 2020 (NORTE-01-0246-FEDER-000014, DESVENDAR “DEScobrir, VENcer as Doencas rARas”) - aquisicao de equipamentos para a realizacao da sequenciacao de nova geracao.
#1Paulo GasparH-Index: 1
#2Sandra AlvesH-Index: 2
Last. Laura VilarinhoH-Index: 22
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Last. Sandra AlvesH-Index: 2
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Last. Sandra AlvesH-Index: 2
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#1Paulo GasparH-Index: 1
#2Hugo RochaH-Index: 3
Last. Laura VilarinhoH-Index: 22
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Last. Sandra AlvesH-Index: 2
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This work was supported by Fundacao Millennium bcp (bcp/LIM/DGH/2014). JIS and MFC are grantees from the FCT (SFRH/BD/124372/2016 and SFRH/BPD/101965/2014).
Last. Sandra AlvesH-Index: 2
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#1Paulo GasparH-Index: 1
#2Sandra AlvesH-Index: 2
Last. Laura VilarinhoH-Index: 22
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#1Liliana MatosH-Index: 2
Last. Sandra AlvesH-Index: 2
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This work is supported by the project PTDC /BBB-BMD/6301/2014 (SPLICETHER) financed by Fundacao para a Ciencia e a Tecnologia – Portugal.
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