14 results on '"Hervé, Bérénice"'
Search Results
2. Effects of the implementation of second-line prenatal cell-free DNA testing on termination of pregnancy in a French perinatal network
3. Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology
4. The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
5. Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
6. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
7. First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review
8. 2p25.3 microduplications involving MYT1L:further phenotypic characterization through an assessment of 16 new cases and a literature review
9. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
10. Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
11. Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France
12. First prenatal diagnosis of a ‘pure’ 9q34.3 deletion (Kleefstra syndrome): A case report and literature review
13. Physiopathologie des aneuploïdies : conséquences du déséquilibre chromosomique sur l’organisation nucléaire et l’expression globale du génome
14. Are de novo rea(21;21) chromosomes really de novo?
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.