31 results on '"Brison, Nathalie"'
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2. Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
3. Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
4. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
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. Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
7. A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)
8. Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening
9. Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
10. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
11. Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
12. Fetal sex determination in twin pregnancies using non-invasive prenatal testing
13. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
14. Limb skeletal malformations – What the HOX is going on?
15. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets
16. Pan-Cancer Detection and Typing by Mining Patterns in Large Genome-Wide Cell-Free DNA Sequencing Datasets.
17. Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
18. Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
19. Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations
20. Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
21. Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
22. The BElgian PREnatal MicroArray (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
23. NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies
24. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
25. The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
26. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population
27. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
28. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
29. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
30. Non-Invasive Detection of Genomic Imbalances in Hodgkin/Reed-Sternberg Cells in Early and Advanced Stage Hodgkin Lymphoma By Sequencing of Circulating Cell-Free DNA
31. 06-P045 A G11A mutation N-terminal to the polyalanine tract in HOXD13 causes limb malformations by altering both the stability and the DNA-binding functions of HOXD13
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