Associated Papers
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.
Younes S et al.
Bmc Medical Genomics, 2025
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA et al.
American Journal of Medical Genetics. Part A, 2020
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M et al.
Clinical Genetics, 2016
Validation for clinical use of, and initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing.
Hallam S et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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