156 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. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
9. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
10. Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
11. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
12. Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders
13. Regional genomic instability predisposes to complex dystrophin gene rearrangements
14. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects
15. Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum
16. Clinical and laboratory interpretation of mitochondrial mRNA variants
17. Molecular Spectrum of SLC22A5 (OCTN2) Gene Mutations Detected in 143 Subjects Evaluated for Systemic Carnitine Deficiency
18. Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
19. Molecular Diagnosis of Duchenne/Becker Muscular Dystrophy: Enhanced Detection of Dystrophin Gene Rearrangements by Oligonucleotide Array-Comparative Genomic Hybridization
20. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
21. Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: Evidence that 3199del6 is a disease-causing mutation
22. Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA
23. 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)
24. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
25. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
26. Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios
27. Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
28. Characterization of a recurrent 3.8 kb deletion involving exons 17a and 17b within the CFTR gene
29. Targeted gene panel sequencing prenatally detects two novel mutations of <italic>DYNC2H1</italic> in a fetus with increased biparietal diameter and polyhydramnios.
30. Molecular defects in mitochondrial protein translation machinery
31. Abstract 5264: A novel strategy for accuurate and unambiguous mutation detection of the highly homologous PMS2 gene
32. Molecular characterization of CPS1 deletions by array CGH
33. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
34. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
35. Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene
36. First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
37. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience
38. Benign or pathogenic: Using computer based algorithms for POLG mutation prediction
39. Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes
40. Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome
41. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion
42. De Novo Mutations in POLG Presenting with Acute Liver Failure or Encephalopathy
43. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
44. Mutations in theMPV17 gene are responsible for rapidly progressive liver failure in infancy
45. Developing INFOGENETICS: Experience Guiding Primary Care Providers to Access Medical Genetics Information Electronically in Clinic for Patient Care• 729
46. Mitochondrial DNA polymerase γ mutations: an ever expanding molecular and clinical spectrum.
47. Closely related families of genes code for the α and α‘ subunits of the soybean 7S storage protein complex.
48. De Novo Mutations in POLGPresenting with Acute Liver Failure or Encephalopathy
49. Closely related families of genes code for the {alpha} and {alpha}' subunits of the soybean 7S storage protein complex
50. Correction: Interpretation of mitochondrial tRNA variants.
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