Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Beesley CE et al.
Journal of Inherited Metabolic Disease, 2005
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