163 results on '"Brison, Nathalie"'
Search Results
2. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
3. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
4. Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
5. Comprehensive genome-wide analysis of routine non-invasive test data allows cancer prediction: A single-center retrospective analysis of over 85,000 pregnancies
6. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
7. A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)
8. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
9. Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
10. What helps define outcomes in persistent uninterpretable non‐invasive prenatal testing: Maternal factors, fetal fraction or quality scores?
11. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
12. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
13. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
14. Fetal sex determination in twin pregnancies using non-invasive prenatal testing
15. Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study
16. Maternal liver transplant: Another cause of discordant fetal sex determination using cell‐free DNA
17. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets
18. Limb skeletal malformations – What the HOX is going on?
19. Synpolydactyly and Mutations in the Hoxd13 Gene
20. Non‐invasive prenatal testing suggesting a maternal malignancy: What do we tell the prospective parents in Belgium?
21. Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing
22. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
23. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
24. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets.
25. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations
26. Association of CDH11 with non-syndromic ASD
27. A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).
28. Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
29. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
30. A Placental Trisomy 2 Detected by NIPT Evolved in a Fetal Small Supernumerary Marker Chromosome (sSMC).
31. Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations
32. An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning†
33. Prenatally detected copy number variants in a national cohort: A postnatal follow‐up study
34. A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype
35. Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
36. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
37. The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium
38. HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
39. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
40. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
41. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
42. Response to a comment on “Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing”
43. Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios
44. NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
45. Predicting fetoplacental chromosomal mosaicism during non‐invasive prenatal testing
46. Accuracy and Clinical Value of Maternal Incidental Findings During Noninvasive Prenatal Testing for Fetal Aneuploidies
47. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population
48. Low-pass Sequencing of Plasma Cell DNA and of ccfDNA for the Detection of Copy Number Aberrations and Early Response Monitoring in Multiple Myeloma
49. SA63 - HIGH RATES OF NEURODEVELOPMENTAL RISK CNVs IN PATIENTS WITH INTELLECTUAL DISABILITIES AND CO-MORBID PSYCHIATRIC DISORDERS
50. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
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