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Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ ...
Clinical and molecular phenotype of Aicardi-Goutières syndrome
(2007-10-24)
Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ ...
Síndrome de Aicardi-Goutieres: Diagnóstico genético en una lactante
(Instituto de Medicina Tropical, 2023)
Posible implicación del gen RNASEH1 en la etiología de diabetes mellitus tipo 1Possible implication of the RNASEH1 gene in the etiology of type 1 diabetes mellitus
(Universidad de CaldasGenética Molecular (GENMOL)Grupo Endocrinología y Metabolismo – GEMGrupo Mapeo GenéticoManizales, Caldas, 2022)
Radiation of the Tnt1 retrotransposon superfamily in three Solanaceae genera
(2007-03)
Abstract
Background
Tnt1 was the first active plant retrotransposon identified in tobacco after nitrate reductase gene ...
Radiation of the Tnt1 retrotransposon superfamily in three Solanaceae genera
(2007-03-07)
Abstract
Background
Tnt1 was the first active plant retrotransposon identified in tobacco after nitrate reductase gene disruption. The Tnt1 superfamily comprises elements from ...
Radiation of the Tnt1 retrotransposon superfamily in three Solanaceae genera
(2007-03-07)
Abstract
Background
Tnt1 was the first active plant retrotransposon identified in tobacco after nitrate reductase gene disruption. The Tnt1 superfamily comprises elements from ...
Identificação de genes de predisposição à síndrome dos carcinomas de mama e tireoide por sequenciamento total do exoma
(Universidade Estadual Paulista (UNESP), 2016)
Identificação de genes de predisposição à síndrome dos carcinomas de mama e tireoide por sequenciamento total do exoma
(Universidade Estadual Paulista (Unesp), 2016-02-12)
The identification of predisposing genes and characterization of genetic risk factors for cancer development are essential for the diagnosis, prognosis and genetic counseling of affected patients and their families. A ...