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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 19 cases
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Clinical, biochemical and genetic spectrum of mitochondrial disorders in Egyptian children : a study of 17 cases
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Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)
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Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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A homozygous mutation in IBA57 involved in intramitochondrial iron-sulfur cluster synthesis causes severe encephalopathy and mypathy in two neonates
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Mutation of the iron-sulfur cluster assembly IBA57 gene causes lethal myopathy and encephalopathy