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
Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.
Zhong H et al.
Frontiers in Microbiology, 2026
41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1
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
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