63 results on '"Schmitt, Eric"'
Search Results
2. Impact of Anti-Immigrant Rhetoric on Latinx Families' Perceptions of Child Safety and Health Care Access
3. INRA96 Supplemented With Phospholipids Liposomes, A Promising Approach for Stallion Sperm Chilling
4. A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing
5. Potential benefits of using Hermetia illucens frass as a soil amendment on food production and for environmental impact reduction
6. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
7. Where is the true evaluation of semen quality?
8. Response to Bai et al.
9. Estimating black soldier fly larvae biowaste conversion performance by simulation of midgut digestion
10. Interpretation of mitochondrial tRNA variants
11. How biased is our perception of plant-pollinator networks? A comparison of visit- and pollen-based representations of the same networks
12. Chitosan production with larval exoskeletons derived from the insect protein production
13. Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos
14. 248. Brain-Behavior Phenotypes in 22q11.2 Deletion Syndrome, Idiopathic Psychosis and a Mouse Model
15. Sustainable use of Hermetia illucens insect biomass for feed and food: Attributional and consequential life cycle assessment
16. 190. Novel Diffusion MRI Measures in 22q Deletion Syndrome: Large-Scale International Studies by the ENIGMA-22q Consortium
17. 930: Clinical utility of non-invasive prenatal screening for common dominant monogenic disorders
18. Genomic Analyses Yield Markers for Identifying Agronomically Important Genes in Potato
19. 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
20. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types
21. The benefits of liposomes for chilling canine sperm for 4 days at 4 °C
22. Advantages of highly sensitive NGS based test to detect low levels of mtDNA mutations and large deletions
23. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2
24. Molecular defects in mitochondrial protein translation machinery
25. Potentials of Survivors, Intergenerational Dialogue, Active Ageing and Social Change
26. The finite sample breakdown point of PCS
27. 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
28. Finding multivariate outliers with FastPCS
29. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes
30. Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene
31. First tier molecular diagnosis of mitochondrial disorders — The experience of a mitochondrial diagnostic laboratory pre‐NextGen era
32. The advantages of using a combination of LDL and glutamine in comparison with TRIS egg yolk and Equex® STAMP extenders in the cryopreservation of canine semen
33. Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
34. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory’s experience
35. Liposomes as an alternative to egg yolk in stallion freezing extender
36. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
37. A novel mitochondrial tRNA lysine variant, m.8358A>G, associated with exercise intolerance, muscle weakness, and fatigue
38. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
39. Benign or pathogenic: Using computer based algorithms for POLG mutation prediction
40. Utilization of targeted array comparative genomic hybridization, MitoMet®, in prenatal diagnosis of metabolic disorders
41. Critical Decisions in Emergency & Acute Care Electrocardiography
42. Dialogue between generations – basic ideas, implementation and evaluation of a strategy to increase generativity in post-soviet societies
43. Molecular characterization of CPS1 deletions by array CGH
44. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
45. Freezing canine sperm: Comparison of semen extenders containing Equex® and LDL (Low Density Lipoproteins)
46. 131 Prevalence of autistic features in patients with definite diagnosis of mitochondrial disorder
47. 78 MPV17—Associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
48. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
49. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
50. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion
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