17 results on '"Schmitt, Eric S."'
Search Results
2. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing
3. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types
4. Response to Bai et al.
5. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA
6. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2
7. Correction: Interpretation of mitochondrial tRNA variants
8. Clinical and laboratory interpretation of mitochondrial mRNA variants
9. Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA
10. Correction: Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes (PLoS ONE (2010) 5:12 (e15687) DOI: 10.1371/journal.pone.0015687)
11. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
12. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
13. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios
14. Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
15. Targeted gene panel sequencing prenatally detects two novel mutations of <italic>DYNC2H1</italic> in a fetus with increased biparietal diameter and polyhydramnios.
16. Molecular defects in mitochondrial protein translation machinery
17. Abstract 5264: A novel strategy for accuurate and unambiguous mutation detection of the highly homologous PMS2 gene
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