Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK5_het
Loss of tissue-type plasminogen activator causes multiple developmental anomalies.
Uguen K et al.
Brain Communications, 2024
39574431 (PubMed )
Supplement: fcae408_supplementary_data.zip › Supplementary_Table_1.xlsx › Supplementary_Table_1
Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype.
Zsurka G et al.
Cells, 2023
36672163 (PubMed )
Supplement: cells-12-00227-s001.zip › BATF2_Supplement_clean.pdf
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