Associated Papers
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Marinakis NM et al.
Clinical Genetics, 2026
40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM4_ESM.xlsx › Sheet1
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
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.s003.xlsx › MAN2B1_gene_network_Phenolyzer
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency.
Kinjo K et al.
Scientific Reports, 2020
32620854 (PubMed )
Supplement: 41598_2020_67715_MOESM2_ESM.xlsx › Supplementary_Table_1
Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.
Cafri G et al.
Nature Communications, 2019
30683863 (PubMed )
Supplement: 41467_2019_8304_MOESM5_ESM.xlsx › Sheet1
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