Associated Papers
Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.
Chen Y et al.
The Journal of Dermatology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S et al.
European Journal of Medical Genetics, 2023
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1
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