Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
40037090 (PubMed )
Supplement: mmc2.pdf
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
37292598 (PubMed )
Supplement: media-1.xlsx › Variants
High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis.
Marcos González S et al.
Biomedicines, 2023
37371859 (PubMed )
Supplement: biomedicines-11-01764-s001.zip › biomedicines-2420377-supplementary.pdf
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R et al.
Plos One, 2021
34614013 (PubMed )
Supplement: pone.0258202.s002.xlsx › Feuil1
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › _Table_S6
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC8_ERR166330
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