Associated Papers
Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.
Noorian S et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2022
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.
Muthusamy B et al.
Frontiers in Psychiatry, 2020
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Punzi G et al.
Human Molecular Genetics, 2018
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