Associated Papers
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Undiagnosed
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
Ploski R et al.
American Journal of Medical Genetics. Part A, 2016
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Chen PC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
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