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12 ensaios clínicos encontrados, 2 ativos.
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Deep learning assisted retinal microvasculature assessment and cerebral small vessel disease in Fabry disease.
Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model.
Elucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.