143 results on '"Eggers, Stefanie"'
Search Results
2. The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study
3. Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol
4. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
5. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
6. Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
7. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
8. The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
9. FGF9 variant in 46, XY DSD patient suggests a role for dimerization in sex determination
10. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
11. FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.
12. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
13. Genetic regulation of mammalian gonad development
14. Mammalian sex determination—insights from humans and mice
15. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
16. The severe epilepsy syndromes of infancy: A population‐based study
17. Detecting DNaseI-Hypersensitivity Sites with MLPA
18. CITED2 mutations potentially cause idiopathic premature ovarian failure
19. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
20. Analysis of variants inGATA4andFOG2/ZFPM2demonstrates benign contribution to 46,XY disorders of sex development
21. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
22. Additional file 2: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
23. Additional file 5: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
24. Additional file 4: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
25. Additional file 3: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
26. Additional file 1: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
27. Additional file 6: of The association between pneumococcal vaccination, ethnicity, and the nasopharyngeal microbiota of children in Fiji
28. Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature
29. Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care
30. Cover Image, Volume 40, Issue 2
31. NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients
32. Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach
33. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
34. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
35. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development
36. Additional file 10: of MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing
37. Additional file 2: Figure S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
38. XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)
39. The Dose-Dependent Effects of Microrna-155 in Acute Myeloid Leukemia
40. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
41. NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients.
42. Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort
43. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia
44. MethPat: a tool for the analysis and visualisation of complex methylation patterns obtained by massively parallel sequencing
45. Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat
46. Exemplary multiplex bisulfite amplicon data used to demonstrate the utility of Methpat
47. A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.
48. Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
49. Copy number variation associated with meiotic arrest in idiopathic male infertility
50. Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.