Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
[Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family].
Golikova PI et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2021
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
Kozina AA et al.
Molecular Genetics & Genomic Medicine, 2020
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