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Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
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Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
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Molecular Genetics & Genomic Medicine, 2024
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
De Castro M et al.
Jimd Reports, 2015
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