Researcher Research Centre for Medical Genetics Russia
Maria Akhkiamova is a distinguished researcher at the Research Centre for Medical Genetics in Moscow, Russia. With a profound expertise in neonatal screening and genetic analysis, Maria has made significant contributions to understanding genetic disorders through advanced molecular techniques. 🧬✨
Profile
ORCiD
Education
Maria Akhkiamova pursued her education in genetics and molecular biology, equipping herself with the knowledge and skills necessary for her research in genetic screening and analysis. 🎓📚
Experience
With extensive experience in medical genetics, Maria Akhkiamova has worked at the Research Centre for Medical Genetics in Moscow, where she focuses on neonatal screening and the genetic underpinnings of disorders such as spinal muscular atrophy. 🏥🔬
Research Interest
Maria Akhkiamova’s research interests lie in the field of neonatal screening, genetic diagnostics, and the molecular mechanisms underlying genetic disorders. Her work aims to enhance early detection and intervention strategies for genetic conditions. 🔍🧪
Awards
Maria Akhkiamova has been nominated for various awards in recognition of her groundbreaking research in genetic screening and her contributions to medical genetics. 🏅🎖️
Publications
Rare Variants of the SMN1 Gene Detected during Neonatal Screening (2024)
- Journal: Genes
- Link: Genes 2024
- Cited by: Various subsequent studies on neonatal genetic screening and spinal muscular atrophy.