Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.
Papadopoulou-Legbelou K et al.
Case Reports in Genetics, 2024
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay.
Al Tuwaijri A et al.
Molecular Genetics & Genomic Medicine, 2022
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