Associated Papers
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41007772 (PubMed )
Supplement: biomedicines-13-02210-s001.zip › biomedicines-3684120_BTD_Table_S1.xlsx › SNPs
Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
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Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
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European Journal of Human Genetics : Ejhg, 2016
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
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