Associated Papers
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
41210864 (PubMed )
Supplement: Table_4.XLSX › Supplementary_Table_4
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Brinkmann J et al.
European Journal of Human Genetics : Ejhg, 2021
Expansion of the RASopathies.
Tidyman WE et al.
Current Genetic Medicine Reports, 2016
External ear anomalies and hearing impairment in Noonan Syndrome.
van Trier DC et al.
International Journal of Pediatric Otorhinolaryngology, 2015
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