Genetics      Science, Nature & Maths      Biological Sciences

ANÁLISE GENÉTICA DE UMA ANOMALIA CEREBRAL CONGÉNITA: O DANDY-WALKER

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Book Details
Language
Portuguese
Publishers
Edições Nosso Conhecimento (9 Aug. 2024)
Weight
0.09 KG
Publication Date
09/08/2024
ISBN-10
6207912004
Pages
52 pages
ISBN-13
9786207912001
Dimensions
15.24 x 0.3 x 22.86 cm
SKU
9786207912001
Author Name
Usman Wajid (Author)
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O estudo "Análise genética de uma anomalia congénita do cérebro: Dandy-Walker" centra-se na investigação da base genética da malformação de Dandy-Walker, uma doença congénita complexa do cérebro caracterizada por anomalias no cerebelo e nos espaços cheios de líquido que o rodeiam. Este estudo visa identificar mutações e variações genéticas específicas associadas ao desenvolvimento da malformação de Dandy-Walker, fornecendo informações sobre a sua patogénese e potenciais vias para o diagnóstico precoce, a gestão e as intervenções terapêuticas.

Através de técnicas genómicas avançadas, a investigação procura desvendar os mecanismos moleculares subjacentes a esta doença e melhorar a nossa compreensão dos seus determinantes genéticos. .

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