Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
Array genotyping as diagnostic approach in medical genetics.
Witsch-Baumgartner M et al.
Molecular Genetics & Genomic Medicine, 2022
35912641 (PubMed )
Supplement: MGG3-10-e2016-s001.docx
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Thauvin-Robinet C et al.
European Journal of Human Genetics : Ejhg, 2019
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.
Ogino S et al.
The Journal of Molecular Diagnostics : Jmd, 2007
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