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Browsing Tag

Paediatrics

2 posts
GGenetics
Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene
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Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene

  • 24 May 2025
Artificial Intelligence in genetic medicine offers great potential for improving diagnosis and treatment. However, sustainable AI implementation in…
GGenetics
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
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Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level

  • 19 April 2025
Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters.…
United Kingdom
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