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11  Articles
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AbstractThat the correct chromosome number in man is 46 was first recognized by Tjio and Levan in 1956. Perhaps few Indonesians know that Tjio was an Indonesian scientist studying in Sweden and then living in the US. Cytogenetic analyses are commonly perf... see more

El síndrome de X Frágil (SXF) es la primera causa de discapacidad intelectual de origen hereditario y la segunda de origen genético después del síndrome de Down. Se produce por una mutación en el gen FMR1 en el brazo largo del cromosoma X. Su fenotipo es ... see more

CATEGORÍA PRESENTACIÓN ORAL:CONSEJERÍA GENÉTICA Y REPRODUCTIVA EN PORTADORES DE PREMUTACIÓN EN UN CONGLOMERADO GEOGRÁFICO DE SÍNDROME X FRÁGILWilmar Saldarriaga Gil, José Vicente Forero Forero, Andrés Fandiño Losada, Julián Ramírez Cheyne, Julieth Tatiana... see more

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing... see more

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID), and the leading monogenic cause of autism spectrum disorders. The FXS cases in China were first reported in 1984, and effort has been made to improve the wellbeing... see more

A Análise Cromossômica por Microarranjo (CMA) é recomendada como primeiro teste genético para o diagnóstico de indivíduos com deficiência intelectual, TEA e anormalidades congênitas múltiplas. O objetivo do estudo foi demonstrar aplicação do CMA para cont... see more

Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females. To date, the vast majority of research on FXS has predominantly targeted males, who usually ex... see more

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